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1. Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z: Cardiopulmonary exercise testing in Fabry disease. Respiration; 2005 Sep-Oct;72(5):504-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cardiopulmonary exercise testing in Fabry disease.
  • BACKGROUND: Fabry disease is a rare X-linked disorder that results from a deficiency in a lysosomal enzyme known as alpha-galactosidase A, with accumulation of globotriaosylceramide (Gl3).
  • Early manifestations include angiokeratomas, acroparesthesias, and hypohidrosis and may progress to renal failure, cardiac dysfunction, and stroke.
  • OBJECTIVE: Our study evaluates the cardiopulmonary characteristics in a cohort of Fabry disease patients at rest and during exercise.
  • METHODS: Thirty-nine patients with a diagnosis of Fabry disease underwent a health screening history and physical examination, an electrocardiogram, an echocardiogram, pulmonary function testing (spirometry), and a non-invasive cardiopulmonary exercise test.
  • CONCLUSIONS: Our finding of a significant decrease in DBP in patients with Fabry disease may explain deficits in exercise tolerance.
  • It is notable that this abnormality is manifested in female patients, even though they are typically not as severely affected as males.
  • [MeSH-major] Exercise / physiology. Fabry Disease / physiopathology. Rest / physiology


2. Kontogianni-Katsaros K, Kairi-Vassilatoy E, Grapsa D, Papadias K, Hasiakos D, Kondi-Pafitis A: Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports. Eur J Gynaecol Oncol; 2006;27(6):632-3
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  • [Title] Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports.
  • Angiokeratomas are rare benign dermal lesions of the external genital system and occur before the age of 50 years.
  • Four cases of angiokeratoma of the vulva diagnosed at our institution in a ten-year-period are reported and issues of the differential diagnosis are discussed.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology. Vulvar Diseases / pathology

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  • (PMID = 17290602.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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3. Mittal R, Aggarwal A, Srivastava G: Angiokeratoma circumscriptum: a case report and review of the literature. Int J Dermatol; 2005 Dec;44(12):1031-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum: a case report and review of the literature.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16409270.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 31
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4. Dobrovolskiene R, Utkus A, Tumiene B, Rainiene T, Czartoryska B: [Fabry's disease: a clinical case and literature review]. Medicina (Kaunas); 2007;43 Suppl 1:139-44
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  • [Title] [Fabry's disease: a clinical case and literature review].
  • Fabry's disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below.
  • From 2001, this disease is one of inborn errors of metabolism in which enzyme replacement therapy is applied very effectively.
  • Two atypical forms of the disease were discovered, and the first surveys were done revealing that the incidence of Fabry's disease can be much more higher than it was considered before.
  • A clinical case of Fabry's disease is described, and actual issues of diagnostics and treatment of Fabry's disease are discussed.
  • In spite of very typical symptoms, delayed diagnosis was made: after the first investigation of alpha-galactosidase A activity in dry blood sample, diagnosis of Fabry's disease was rejected; only after lysosomal enzyme activity assay in heparinized blood leukocytes, this diagnosis was confirmed.
  • [MeSH-major] Fabry Disease. Kidney Failure, Chronic / diagnosis
  • [MeSH-minor] Angiokeratoma / diagnosis. Clinical Enzyme Tests. Humans. Lysosomes / enzymology. Phenotype. Skin Neoplasms / diagnosis. Thorax. Time Factors

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  • (PMID = 17551292.001).
  • [ISSN] 1648-9144
  • [Journal-full-title] Medicina (Kaunas, Lithuania)
  • [ISO-abbreviation] Medicina (Kaunas)
  • [Language] lit
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Lithuania
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6. Mirceva V, Hein R, Ring J, Möhrenschlager M: A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease. Australas J Dermatol; 2010 Feb;51(1):36-8
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  • [Title] A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
  • Fabry disease is a rare, X-chromosome-linked lysosomal storage disease caused by a deficient alpha-galactosidase A enzyme.
  • The disease manifests primarily in affected hemizygous males and to some extent in heterozygous females ('carrier').
  • A 45-year-old female Fabry disease patient without angiokeratomas but with numerous angiomas is presented.
  • An intrafamilial follow-up search detected a reduced leukocyte alpha-galactosidase A activity in her father, who suffered exclusively from coronary heart disease.
  • Our case report underlines the possible wide range of clinical signs in Fabry disease patients, sometimes complicated by missing typical lesions (e.g. angiokeratomas).
  • In oligosymptomatic Fabry disease cases, genetic analysis is recommended.
  • [MeSH-major] Fabry Disease / diagnosis. Hemangioma / diagnosis. Heterozygote Detection. Skin Neoplasms / diagnosis. alpha-Galactosidase / genetics
  • [MeSH-minor] Angiokeratoma / diagnosis. Angiokeratoma / genetics. Angiokeratoma / pathology. Female. Heterozygote. Humans. Leukocytes / enzymology. Male. Middle Aged


7. Gayathri N, Yasha TC, Kanjalkar M, Agarwal S, Sagar BK, Santosh V, Shankar SK: Fabry's disease: An ultrastructural study of nerve biopsy. Ann Indian Acad Neurol; 2008 Jul;11(3):182-4
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  • [Title] Fabry's disease: An ultrastructural study of nerve biopsy.
  • Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A (alpha-gal A), leads to progressive accumulation of glycosphingolipids.
  • We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

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  • [Cites] J Inherit Metab Dis. 2007 Jun;30(3):365-9 [17458709.001]
  • [Cites] Muscle Nerve. 2005 Jan;31(1):102-7 [15389653.001]
  • [Cites] Clin Exp Rheumatol. 1998 Jul-Aug;16(4):475-8 [9706432.001]
  • [Cites] N Engl J Med. 2001 Jul 5;345(1):9-16 [11439963.001]
  • [Cites] Clin Rheumatol. 1992 Dec;11(4):562-5 [1486752.001]
  • [Cites] Nephron. 1983;34(3):180-4 [6410291.001]
  • [Cites] J Neurol. 1997 Jul;244(7):464-8 [9266469.001]
  • (PMID = 19893666.001).
  • [ISSN] 1998-3549
  • [Journal-full-title] Annals of Indian Academy of Neurology
  • [ISO-abbreviation] Ann Indian Acad Neurol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2771983
  • [Keywords] NOTNLM ; Angiokeratomas / Fabry's disease / lamellated inclusions
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8. He JQ, Han ZH, Ren XJ, Gao YC, Zhang XL, Jiang TY: [The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy]. Zhonghua Xin Xue Guan Bing Za Zhi; 2009 Apr;37(4):320-3
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  • One male patient with clinicopathological features of early onset, muscle weakness, ventricular preexcitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachial muscle cells was diagnosed Danon's disease.
  • Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of alpha-galactosidase A activity.

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  • (PMID = 19791467.001).
  • [ISSN] 0253-3758
  • [Journal-full-title] Zhonghua xin xue guan bing za zhi
  • [ISO-abbreviation] Zhonghua Xin Xue Guan Bing Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
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9. Mayer V, Maetzke J, Scharffetter-Kochanek K: [Punctate maculae on the back of the hands of a 44-year-old woman]. Hautarzt; 2009 May;60(5):428-32
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  • Our differential diagnosis includes idiopathic teleangiectases, teleangiectasia eruptiva perstans, angioma serpiginosum and angiokeratoma corporis diffusum Fabry.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / diagnosis. Hand / pathology. Keratosis / diagnosis. Keratosis / etiology. Macula Lutea / pathology. Skin Neoplasms / complications. Skin Neoplasms / diagnosis

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  • [Cites] Br J Dermatol. 1975 Dec;93(6):701-6 [1220816.001]
  • [Cites] J Dtsch Dermatol Ges. 2006 Aug;4(8):650-3 [16895567.001]
  • [Cites] Arch Dermatol. 1965 Dec;92(6):613-20 [5846315.001]
  • [Cites] Hautarzt. 1995 Dec;46(12):847-9 [8567268.001]
  • (PMID = 19225742.001).
  • [ISSN] 1432-1173
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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10. Civaş E, Koç E, Aksoy B, Aksoy HM: Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. Photodermatol Photoimmunol Photomed; 2009 Jun;25(3):166-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser.
  • Various laser treatment modalities for angiokeratomas have been reported in the literature.
  • A 60-year-old male patient presented for the treatment of multiple angiokeratomas of the scrotum and a 56-year-old female patient presented for the treatment of vulvar angiokeratomas.
  • Nd:YAG laser treatment yielded successful results in the treatment of our patients' scrotal and vulvar angiokeratomas following two application sessions.
  • We suggest that a long-pulsed Nd:YAG laser is a safe and effective method for the treatment of angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / therapy. Genital Diseases, Male / therapy. Laser Therapy. Scrotum / pathology. Vulvar Diseases / therapy

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  • (PMID = 19439000.001).
  • [ISSN] 1600-0781
  • [Journal-full-title] Photodermatology, photoimmunology & photomedicine
  • [ISO-abbreviation] Photodermatol Photoimmunol Photomed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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11. Ries M, Schiffmann R: Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function. Arch Dermatol; 2005 Jul;141(7):904-5; author reply 905-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / epidemiology. Fabry Disease / diagnosis. Fabry Disease / epidemiology
  • [MeSH-minor] Adolescent. Age Distribution. Biomarkers / analysis. Child. Child, Preschool. Comorbidity. Confidence Intervals. Disease Progression. Female. Humans. Incidence. Male. Prognosis. Risk Factors. Sensitivity and Specificity. Severity of Illness Index. Sex Distribution. Treatment Outcome. Trihexosylceramides / therapeutic use

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  • [CommentOn] Arch Dermatol. 2004 Dec;140(12):1526-8 [15611435.001]
  • (PMID = 16027312.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Comment; Comparative Study; Letter; Meta-Analysis
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers; 0 / Trihexosylceramides
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12. Trickett R, Dowd H: Angiokeratoma of the scrotum: a case of scrotal bleeding. Emerg Med J; 2006 Oct;23(10):e57
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  • [Title] Angiokeratoma of the scrotum: a case of scrotal bleeding.
  • A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract tumours, varicoceles, hernias and angiokeratoma corporis diffusum (Fabry syndrome) were excluded.
  • The important differential diagnoses are angiokeratoma corporis diffusum and malignant melanoma (nodular type).
  • In females, Fordyce angiokeratoma are distributed on labia majora.
  • [MeSH-major] Angiokeratoma / diagnosis. Hemorrhage / etiology. Scrotum. Skin Neoplasms / diagnosis

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  • [Cites] Mil Med. 1994 Jul;159(7):523-4 [7816227.001]
  • [Cites] Arch Dermatol. 2005 Oct;141(10):1325-6 [16230581.001]
  • [Cites] Dermatology. 1996;193(4):275-82 [8993949.001]
  • (PMID = 16988295.001).
  • [ISSN] 1472-0213
  • [Journal-full-title] Emergency medicine journal : EMJ
  • [ISO-abbreviation] Emerg Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2579622
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13. Karetova D, Bultas J, Dostalova G, Palecek T, Kovarnik T, Golan L, Linhart A: Fabry disease - Vascular manifestations. Vasa; 2010 May;39(2):123-31
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  • [Title] Fabry disease - Vascular manifestations.
  • Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by the deficient activity of alpha-galactosidase A which results in the accumulation of neutral glycosphingolipids in various tissues leading particularly to vasculopathy, cardiomyopathy, neuropathy, and chronic kidney disease.
  • Although there are some signs and symptoms suggestive of FD including painful crisis, angiokeratomas, and corneal changes, the majority of FD complications are non-specific (left ventricular hypertrophy, conduction abnormalities, vascular spasms, proteinuria, renal insufficiency), which is why FD still remains largely underdiagnosed.
  • [MeSH-major] Fabry Disease / complications. Vascular Diseases / etiology

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  • (PMID = 20464667.001).
  • [ISSN] 0301-1526
  • [Journal-full-title] VASA. Zeitschrift für Gefässkrankheiten
  • [ISO-abbreviation] VASA
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Glycosphingolipids; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 59
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14. Cordeiro CA, Oréfice F, Lasmar EP, Santos HH, Valadares ER: [Cornea verticillata - a clinical marker of Fabry disease: case report]. Arq Bras Oftalmol; 2007 Jul-Aug;70(4):701-5
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  • [Title] [Cornea verticillata - a clinical marker of Fabry disease: case report].
  • Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity.
  • The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations.
  • A family with Fabry's disease including 2 female patients and 3 male patients is reported.
  • Cornea verticillata was a constant finding in all patients.
  • This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.
  • [MeSH-major] Corneal Opacity / enzymology. Fabry Disease / enzymology. alpha-Galactosidase / blood

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  • [CommentIn] Arq Bras Oftalmol. 2008 Mar-Apr;71(2):300; author reply 300 [18516439.001]
  • (PMID = 17906770.001).
  • [ISSN] 0004-2749
  • [Journal-full-title] Arquivos brasileiros de oftalmologia
  • [ISO-abbreviation] Arq Bras Oftalmol
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Brazil
  • [Chemical-registry-number] 0 / Biomarkers; EC 3.2.1.22 / alpha-Galactosidase
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15. Lee MW, Lee DK, Choi JH, Moon KC, Koh JK: Clinicopathologic study of cutaneous pseudolymphomas. J Dermatol; 2005 Jul;32(7):594-601
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  • The histologic patterns were diverse, MF-like, perivascular/periadnexal, nodular, diffuse, pseudolymphomatous folliculitis, and acral pseudolymphomatous angiokeratoma of children (APACHE) patterns.

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  • (PMID = 16335878.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Japan
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16. Müller MJ, Müller KM, Dascalescu A, Whybra C, Baron K, Scheurich A, Mann K, Beck M, Schmidt LG, Fellgiebel A: [Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]. Fortschr Neurol Psychiatr; 2005 Nov;73(11):687-93
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review].
  • Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity.
  • The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia.
  • Since 2001 two enzyme replacement therapies are approved which can possibly stop the disease progress and alleviate symptoms.
  • [MeSH-major] Fabry Disease / psychology. Neuropsychological Tests

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  • (PMID = 16283613.001).
  • [ISSN] 0720-4299
  • [Journal-full-title] Fortschritte der Neurologie-Psychiatrie
  • [ISO-abbreviation] Fortschr Neurol Psychiatr
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 44
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17. Campbell T, Dimitropoulos VA, Brown C Jr: Successful treatment of eruptive unilateral angiokeratomas. Arch Dermatol; 2008 Dec;144(12):1663-4
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  • [Title] Successful treatment of eruptive unilateral angiokeratomas.
  • [MeSH-major] Angiokeratoma / surgery. Electrocoagulation. Laser Therapy

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  • (PMID = 19075162.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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18. Hoffmann B, Mayatepek E: Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int; 2009 Jun;106(26):440-7
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  • [Title] Fabry disease-often seen, rarely diagnosed.
  • BACKGROUND: Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed.
  • Thus, there is often a delay before the diagnosis of Fabry disease is established.
  • RESULTS: The number of patients carrying the diagnosis of Fabry disease in Germany lies far below what would be expected from published prevalence figures from other countries.
  • Angiokeratoma, acroparesthesia, hypertrophic cardiomyopathy, impaired sweating and corneal opacification (cornea verticillata) are typical manifestations of Fabry disease; many patients also have other, nonspecific complaints, such as gastrointestinal disturbances.
  • Studies involving large groups of patients have improved our understanding of hearing impairment and tinnitus in Fabry disease.
  • CONCLUSIONS: Fabry disease is still underdiagnosed.
  • Treatment with human alpha-galactosidase A produced with genetic technology can improve most of the disease's manifestations.
  • [MeSH-major] Diagnostic Errors / prevention & control. Fabry Disease / diagnosis. Fabry Disease / therapy

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  • [Cites] Br J Ophthalmol. 2007 Feb;91(2):210-4 [16973664.001]
  • [Cites] Eye (Lond). 2007 Mar;21(3):448; author reply 448-9 [17024216.001]
  • [Cites] Acta Paediatr Suppl. 2007 Apr;96(455):84-6 [17391450.001]
  • [Cites] Eur Heart J. 2007 May;28(10):1228-35 [17483538.001]
  • [Cites] Clin J Pain. 2007 Jul-Aug;23(6):535-42 [17575495.001]
  • [Cites] Br J Dermatol. 2007 Aug;157(2):331-7 [17573884.001]
  • [Cites] Prenat Diagn. 2007 Aug;27(8):693-4 [17533632.001]
  • [Cites] Circulation. 2007 Sep 18;116(12):e350-1 [17875975.001]
  • [Cites] J Neurol. 2007 Oct;254(10):1433-42 [17934877.001]
  • [Cites] Am J Kidney Dis. 2008 May;51(5):767-76 [18436087.001]
  • [Cites] Am J Pathol. 2008 Jun;172(6):1482-90 [18467700.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1249-54 [18535022.001]
  • [Cites] Pediatr Res. 2008 Nov;64(5):550-5 [18596579.001]
  • [Cites] Eur J Echocardiogr. 2008 Nov;9(6):729-35 [18490303.001]
  • [Cites] Am J Nephrol. 2009;29(5):353-61 [18974635.001]
  • [Cites] Eye (Lond). 2007 Mar;21(3):431-2 [16858434.001]
  • [Cites] Clin Gastroenterol Hepatol. 2007 Dec;5(12):1447-53 [17919989.001]
  • [Cites] J Inherit Metab Dis. 2007 Nov;30(6):943-51 [17994284.001]
  • [Cites] J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403 [18154965.001]
  • [Cites] Heart. 2008 Feb;94(2):153-8 [17483124.001]
  • [Cites] Acta Paediatr. 2008 Apr;97(4):463-9 [18363956.001]
  • [Cites] Nucl Med Commun. 1998 Sep;19(9):887-91 [10581595.001]
  • [Cites] JAMA. 2001 Jun 6;285(21):2743-9 [11386930.001]
  • [Cites] N Engl J Med. 2001 Jul 5;345(1):9-16 [11439963.001]
  • [Cites] Circulation. 2001 Sep 25;104(13):1506-12 [11571244.001]
  • [Cites] J Med Genet. 2001 Nov;38(11):750-60 [11694547.001]
  • [Cites] Kidney Int. 2002 Jan;61(1):249-55 [11786107.001]
  • [Cites] J Inherit Metab Dis. 2001 Dec;24(7):715-24 [11804208.001]
  • [Cites] Stroke. 2002 Feb;33(2):525-31 [11823664.001]
  • [Cites] Medicine (Baltimore). 2002 Mar;81(2):122-38 [11889412.001]
  • [Cites] Qual Life Res. 2002 Mar;11(2):127-33 [12018736.001]
  • [Cites] J Clin Neurophysiol. 2002 Dec;19(6):575-86 [12488789.001]
  • [Cites] Cornea. 2003 Mar;22(2):175-7 [12605057.001]
  • [Cites] Glycobiology. 2003 Apr;13(4):305-13 [12626384.001]
  • [Cites] Circulation. 2003 Sep 16;108(11):1299-301 [12952834.001]
  • [Cites] Muscle Nerve. 2003 Dec;28(6):703-10 [14639584.001]
  • [Cites] Brain Res Bull. 2003 Dec 30;62(3):231-40 [14698356.001]
  • [Cites] J Inherit Metab Dis. 2003;26(8):787-94 [14739683.001]
  • [Cites] Eur J Clin Invest. 2004 Mar;34(3):236-42 [15025684.001]
  • [Cites] Neurology. 2004 Apr 13;62(7):1066-72 [15079003.001]
  • [Cites] J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68 [15091117.001]
  • [Cites] J Am Soc Nephrol. 2004 May;15(5):1323-9 [15100373.001]
  • [Cites] Kidney Int. 2004 Sep;66(3):978-82 [15327390.001]
  • [Cites] Arch Ophthalmol. 1965 Dec;74(6):760-9 [5846554.001]
  • [Cites] Gastroenterology. 1982 May;82(5 Pt 1):957-62 [6800874.001]
  • [Cites] Neurology. 1982 May;32(5):498-502 [6803189.001]
  • [Cites] Acta Ophthalmol (Copenh). 1984 Dec;62(6):923-31 [6098121.001]
  • [Cites] Ophthalmologica. 1988;196(3):132-6 [3136413.001]
  • [Cites] Ann Otol Rhinol Laryngol. 1989 May;98(5 Pt 1):359-63 [2497691.001]
  • [Cites] Acta Ophthalmol (Copenh). 1994 Oct;72(5):635-8 [7887166.001]
  • [Cites] Clin Auton Res. 1996 Apr;6(2):107-10 [8726095.001]
  • [Cites] Neurology. 1998 Jun;50(6):1746-9 [9633721.001]
  • [Cites] J Dermatol Sci. 1998 Nov;18(2):109-17 [9833977.001]
  • [Cites] JAMA. 1999 Jan 20;281(3):249-54 [9918480.001]
  • [Cites] Lymphat Res Biol. 2003;1(3):185-9 [15624436.001]
  • [Cites] Pediatrics. 2005 Mar;115(3):e344-55 [15713906.001]
  • [Cites] J Med Genet. 2005 Mar;42(3):247-52 [15744039.001]
  • [Cites] Clin Experiment Ophthalmol. 2005 Apr;33(2):164-8 [15807825.001]
  • [Cites] Am J Cardiol. 2005 Sep 15;96(6):842-6 [16169374.001]
  • [Cites] Clin Exp Nephrol. 2005 Sep;9(3):228-32 [16189631.001]
  • [Cites] Lancet. 2005 Nov 19;366(9499):1794-6 [16298216.001]
  • [Cites] Heart. 2006 Mar;92(3):357-60 [16085718.001]
  • [Cites] Am J Hum Genet. 2006 Jul;79(1):31-40 [16773563.001]
  • [Cites] Eur J Clin Invest. 2006 Sep;36(9):654-62 [16919049.001]
  • [Cites] Clin Nephrol. 2006 Aug;66(2):77-84 [16939062.001]
  • [Cites] Brain. 2007 Jan;130(Pt 1):143-50 [17105746.001]
  • [CommentIn] Clin Genet. 2013 Jun;83(6):584 [23557189.001]
  • (PMID = 19623315.001).
  • [ISSN] 1866-0452
  • [Journal-full-title] Deutsches Ärzteblatt international
  • [ISO-abbreviation] Dtsch Arztebl Int
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 72
  • [Other-IDs] NLM/ PMC2704393
  • [Keywords] NOTNLM ; Fabry disease / diagnosis / enzyme substitution / lysosomal storage disease / molecular medicine
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19. Porsch DB, Nunes AC, Milani V, Rossato LB, Mattos CB, Tsao M, Netto C, Burin M, Pereira F, Matte U, Giugliani R, Barros EJ: Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail; 2008;30(9):825-30
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  • [Title] Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
  • BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of alpha-Galactosidase A (alpha-Gal A).
  • Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and/or kidney transplantation.
  • Of these, only two had low alpha-Gal A activity and were diagnosed with Fabry disease (0.36%).
  • One of these, age 42, had left ventricular hypertrophy and renal manifestations of Fabry disease without the classic symptoms.
  • The other, age 46, had the classical manifestations of angiokeratomas, acroparesthesias, hypohidrosis, and ocular opacities.
  • CONCLUSIONS: Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.
  • [MeSH-major] Fabry Disease / epidemiology. Kidney Failure, Chronic / complications. Renal Dialysis


20. Saip S, Uluduz D, Erkol G: Fabry disease mimicking multiple sclerosis. Clin Neurol Neurosurg; 2007 May;109(4):361-3
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  • [Title] Fabry disease mimicking multiple sclerosis.
  • Fabry disease is an X-linked recessive lysosomal storage disorder resulting from the deficiency of alpha-galactosidase.
  • This disease causes endothelial vasculopathy and affects multiple organ systems.
  • Hemizygous male patients represent the classical renal, cardiac and neurological symptoms of disease.
  • The dermatological, neurological, laboratory, and radiological findings were all suggestive of Fabry disease and the diagnosis was confirmed by subsequent enzyme assays.
  • Fabry disease should be considered in young patients with unexplained stroke-like episodes, especially in those who have infarction in the vertebrobasilar arterial system, angiokeratomas, and proteinuria.
  • [MeSH-major] Fabry Disease / diagnosis. Multiple Sclerosis / diagnosis


21. Bello-Quintero CE, Gonzalez ME, Alvarez-Connelly E: Halo nevi in Turner syndrome. Pediatr Dermatol; 2010 Jul-Aug;27(4):368-9
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  • Rarely reported cutaneous manifestations in Turner syndrome include hemangiomas, angiokeratomas, hirsutism, and halo nevi.


22. Gansz B, Ständer S, Metze D: [Acral pseudolymphomatous angiokeratoma of children (APACHE)]. Hautarzt; 2005 Mar;56(3):270-2
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  • [Title] [Acral pseudolymphomatous angiokeratoma of children (APACHE)].
  • Acral pseudolymphomatous angiokeratoma of children (APACHE) is a pseudolymphoma of posttraumatic origin which was first described in 1988.
  • [MeSH-major] Angiokeratoma / pathology. Angiokeratoma / therapy. Foot Injuries / pathology. Pseudolymphoma / pathology. Pseudolymphoma / therapy. Skin Neoplasms / pathology. Skin Neoplasms / therapy

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  • [Cites] Arch Dermatol. 1990 Nov;126(11):1524-5 [2241217.001]
  • [Cites] J Am Acad Dermatol. 2001 Dec;45(6 Suppl):S209-11 [11712061.001]
  • [Cites] J Am Acad Dermatol. 2003 Feb;48(2 Suppl):S15-7 [12582375.001]
  • [Cites] Am J Dermatopathol. 1995 Apr;17(2):209-11 [8600790.001]
  • [Cites] Br J Dermatol. 1991 Apr;124(4):387-8 [2025562.001]
  • [Cites] Br J Dermatol. 2001 Sep;145(3):512-4 [11531852.001]
  • [Cites] Acta Derm Venereol. 2002;82(4):301-2 [12361139.001]
  • [Cites] Am J Dermatopathol. 1994 Apr;16(2):130-3 [8030763.001]
  • [Cites] J Cutan Pathol. 2002 May;29(5):313-8 [12100634.001]
  • (PMID = 15580454.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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23. Yildirim M, Kilinç N, Oktay MF, Topçu I: A case of solitary angiokeratoma circumscriptum of the tongue. Kulak Burun Bogaz Ihtis Derg; 2007;17(6):333-5
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  • [Title] A case of solitary angiokeratoma circumscriptum of the tongue.
  • Angiokeratoma circumscriptum is an uncommon vascular entity.
  • After an incisional biopsy of the lesion, the diagnosis was made as solitary angiokeratoma circumscriptum.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis. Tongue / pathology

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  • (PMID = 18187999.001).
  • [ISSN] 1300-7475
  • [Journal-full-title] Kulak burun boğaz ihtisas dergisi : KBB = Journal of ear, nose, and throat
  • [ISO-abbreviation] Kulak Burun Bogaz Ihtis Derg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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24. Boggio P, Luna PC, Abad ME, Larralde M: [Fabry disease]. An Bras Dermatol; 2009 Jul-Aug;84(4):367-76
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  • [Title] [Fabry disease].
  • Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A.
  • We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease.
  • [MeSH-major] Fabry Disease

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  • (PMID = 19851669.001).
  • [ISSN] 1806-4841
  • [Journal-full-title] Anais brasileiros de dermatologia
  • [ISO-abbreviation] An Bras Dermatol
  • [Language] por
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Brazil
  • [Number-of-references] 75
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25. Pavone P, Lucenti C, Fraggetta F, Micali G, Incorpora G, Ruggieri M: Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. J Clin Gastroenterol; 2008 Jul;42(6):715-9
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  • [Title] Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
  • We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type).
  • [MeSH-major] Angiokeratoma / complications. Hearing Loss, Sensorineural / complications. Lymphangiectasis / complications. Lymphedema / complications


26. Ghosh SK, Bandyopadhyay D: Acute scrotal bleeding. J Emerg Trauma Shock; 2010 Oct;3(4):416-7
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  • We report a case of acute scrotal hemorrhage from multiple angiokeratomas on scrotum, because of the rarity of the condition and to emphasize the importance of considering this condition in the evaluation of acute scrotal bleeding.

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  • (PMID = 21063571.001).
  • [ISSN] 0974-519X
  • [Journal-full-title] Journal of emergencies, trauma, and shock
  • [ISO-abbreviation] J Emerg Trauma Shock
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2966581
  • [Keywords] NOTNLM ; Angiokeratoma of fordyce / angiokeratoma of scrotum / scrotal bleeding
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27. Baruah J, Roy KK, Rahman SM, Kumar S, Pushparaj M, Mirdha AR: Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report. Arch Gynecol Obstet; 2008 Aug;278(2):165-7
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  • [Title] Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report.
  • A wide local excision was performed and histopathological report confirmed a case of angiokeratoma.
  • To the best of our knowledge this is the first case of angiokeratoma of vulva following chronic HPV infection.
  • [MeSH-major] Angiokeratoma / virology. Human papillomavirus 6 / isolation & purification. Papillomavirus Infections / complications. Skin Neoplasms / virology. Vulva

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  • (PMID = 18193251.001).
  • [ISSN] 0932-0067
  • [Journal-full-title] Archives of gynecology and obstetrics
  • [ISO-abbreviation] Arch. Gynecol. Obstet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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28. Auray-Blais C, Millington DS, Young SP, Clarke JT, Schiffmann R: Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis; 2009 Apr;32(2):303-8
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  • [Title] Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
  • Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A.
  • Incidence estimations of Fabry disease vary widely from 1:55 000 to 1:3000 male births.
  • The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease.
  • The main complications of Fabry disease are a 100-fold increased risk of ischaemic stroke, cardiac disease, a wide variety of arrhythmias, valvular dysfunction and cardiac vascular disease, as well as progressive renal failure usually associated with significant proteinuria.
  • These clinical manifestations are non-specific and are often mistaken for symptoms of other disorders, thus complicating the confirmation of diagnosis.
  • Other clinical features of the disease are often absent (angiokeratoma), subtle (corneal opacities and hypohidrosis), or unaccompanied by specific physical findings (acroparaesthesias) indicating the true nature of the underlying disease.
  • This hypothesis may be tested by a non-invasive high-risk screening protocol for Fabry patients with ischaemic strokes and a variety of cardiac, and renal complications.
  • [MeSH-major] Fabry Disease / diagnosis. Kidney Diseases / diagnosis. Vascular Diseases / diagnosis

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  • [Cites] FEBS Lett. 2002 Mar 27;515(1-3):171-6 [11943216.001]
  • [Cites] Lancet. 2005 Nov 19;366(9499):1754-6 [16298202.001]
  • [Cites] J Inherit Metab Dis. 2005;28(1):35-48 [15702404.001]
  • [Cites] N Engl J Med. 1971 Apr 8;284(14):739-44 [5548035.001]
  • [Cites] N Engl J Med. 1995 Aug 3;333(5):288-93 [7596372.001]
  • [Cites] Eur J Clin Invest. 2004 Mar;34(3):236-42 [15025684.001]
  • [Cites] Circulation. 2004 Aug 31;110(9):1047-53 [15313943.001]
  • [Cites] Pediatr Res. 2004 Nov;56(5):733-8 [15347771.001]
  • [Cites] N Engl J Med. 2001 Jul 5;345(1):9-16 [11439963.001]
  • [Cites] Nephron Clin Pract. 2005;101(1):c33-8 [15886492.001]
  • [Cites] Mol Genet Metab. 2005 Aug;85(4):247-54 [15886040.001]
  • [Cites] Nephrol Dial Transplant. 2006 Feb;21(2):345-54 [16204287.001]
  • [Cites] Kidney Int. 2003 Sep;64(3):801-7 [12911529.001]
  • [Cites] Clin Chim Acta. 2005 Mar;353(1-2):201-3 [15698608.001]
  • [Cites] J Inherit Metab Dis. 2007 Feb;30(1):106 [17171433.001]
  • [Cites] Rapid Commun Mass Spectrom. 2005;19(11):1499-506 [15880667.001]
  • [Cites] Ann Intern Med. 2003 Feb 18;138(4):338-46 [12585833.001]
  • [Cites] Eur J Pediatr. 2004 Oct;163(10 ):595-603 [15243806.001]
  • [Cites] J Med Genet. 1996 Aug;33(8):682-8 [8863162.001]
  • [Cites] JAMA. 1999 Jan 20;281(3):249-54 [9918480.001]
  • [Cites] Clin Chem. 2008 Oct;54(10):1592-4 [18824571.001]
  • [Cites] Virchows Arch A Pathol Anat Histopathol. 1990;417(5):449-55 [2173254.001]
  • [Cites] Mol Genet Metab. 2008 Mar;93(3):331-40 [18023222.001]
  • [Cites] JAMA. 2000 Dec 6;284(21):2771-5 [11105184.001]
  • [Cites] Clin Chem. 2005 Jan;51(1):237-40 [15514097.001]
  • [Cites] Lancet. 2005 Nov 19;366(9499):1794-6 [16298216.001]
  • [Cites] J Inherit Metab Dis. 2005;28(1):21-33 [15702403.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7 [18287059.001]
  • [Cites] Acta Paediatr Suppl. 2002;91(439):15-20 [12572837.001]
  • [Cites] Nephrol Dial Transplant. 2008 Dec;23(12):4044-8 [18596132.001]
  • [Cites] J Am Soc Nephrol. 2007 May;18(5):1576-83 [17409308.001]
  • [Cites] Am J Hum Genet. 2006 Jul;79(1):31-40 [16773563.001]
  • [Cites] J Inherit Metab Dis. 2007 Aug;30(4):515-21 [17570073.001]
  • [Cites] Clin Chem. 2005 Apr;51(4):688-94 [15695328.001]
  • [Cites] Ann Intern Med. 2007 Mar 20;146(6):425-33 [17371887.001]
  • [Cites] Circulation. 2002 Mar 26;105(12 ):1407-11 [11914245.001]
  • (PMID = 19169844.001).
  • [ISSN] 1573-2665
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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29. Seo SH, Chin HW, Sung HW: Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate. Dermatol Surg; 2010 Oct;36(10):1634-7
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  • [Title] Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate.
  • [MeSH-major] Angiokeratoma / therapy. Oleic Acids / administration & dosage. Sclerosing Solutions / administration & dosage. Sclerotherapy / methods. Sodium Tetradecyl Sulfate / administration & dosage

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  • (PMID = 21053421.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oleic Acids; 0 / Sclerosing Solutions; 0 / Surface-Active Agents; 3282-75-5 / ethanolamine oleate; Q1SUG5KBD6 / Sodium Tetradecyl Sulfate
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30. Astner S, González S, Cuevas J, Röwert-Huber J, Sterry W, Stockfleth E, Ulrich M: Preliminary evaluation of benign vascular lesions using in vivo reflectance confocal microscopy. Dermatol Surg; 2010 Jul;36(7):1099-110
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  • MATERIALS AND METHODS: Seven patients with a clinical diagnosis of vascular lesion, including spider angioma, venous lake, cherry angioma, pyogenic granuloma, port wine stain, angiokeratoma, and lymphangioma, participated in this study.

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  • (PMID = 20653723.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Controlled Clinical Trial; Journal Article
  • [Publication-country] United States
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31. Kudumija B, Mrsić M, Dits S, Matijević V, Thune S, Bozina K: [Classical type of Fabry disease without angiokeratomas--a case report]. Lijec Vjesn; 2007 Dec;129(12):396-400
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  • [Title] [Classical type of Fabry disease without angiokeratomas--a case report].
  • [Transliterated title] Klasicni oblik Fabryjeve bolesti bez angiokeratoma--prikaz bolesnika.
  • A patient with classical type of Fabry disease is described.
  • Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease.
  • Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient's death.
  • [MeSH-major] Fabry Disease / diagnosis
  • [MeSH-minor] Adult. Angiokeratoma / complications. Humans. Male. Skin Neoplasms / complications

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  • (PMID = 18383742.001).
  • [ISSN] 0024-3477
  • [Journal-full-title] Lijec̆nic̆ki vjesnik
  • [ISO-abbreviation] Lijec Vjesn
  • [Language] hrv
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Croatia
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32. Navarro C, Teijeira S, Dominguez C, Fernandez JM, Rivas E, Fachal C, Barrera S, Rodriguez C, Iranzo P: Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Acta Neuropathol; 2006 Feb;111(2):178-85
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  • [Title] Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.
  • Fabry disease is a rare X-linked lysosomal storage disorder due to alpha galactosidase A deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement.
  • As other hereditary X-linked disorders, females have historically been considered non-affected carriers, although they are, actually, clinically and pathologically affected to a variable degree.
  • Some women are asymptomatic, but the majority present milder forms of the disease and later onset.
  • This wide range of disease expression is supposed to be related to the levels of enzymatic activity, probably in accordance with a skewing of X inactivation.
  • Lysosomal deposits of ceramide trihexoside have been repeatedly documented in a wide range of tissues, including those found in angiokeratoma, the characteristic cutaneous lesion which allowed the definition of Fabry disease.
  • For that purpose, with electron microscopy and quantitative methods, we studied the extent of lysosomal deposits in dermal fibroblasts of normal-appearing skin in six females and nine men, enzymatically and genetically proven as to have Fabry disease, and results were compared.
  • [MeSH-major] Fabry Disease / genetics. Fabry Disease / pathology. Heterozygote. Skin / ultrastructure

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  • (PMID = 16463201.001).
  • [ISSN] 0001-6322
  • [Journal-full-title] Acta neuropathologica
  • [ISO-abbreviation] Acta Neuropathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Glycosphingolipids; EC 3.2.1.22 / alpha-Galactosidase
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33. Fernández-Aceñero MJ, Rey Biel J, Renedo G: Solitary angiokeratoma of the tongue in adults. Rom J Morphol Embryol; 2010;51(4):771-3
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  • [Title] Solitary angiokeratoma of the tongue in adults.
  • Angiokeratomas are vascular malformations that usually appear as multiple or solitary cutaneous plaques.
  • Mucosal involvement, including the oral cavity, is occasionally found either as a component of the systemic variety, called angiokeratoma corporis diffusum, or associated with cutaneous lesions in more locations.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 21103640.001).
  • [ISSN] 1220-0522
  • [Journal-full-title] Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • [ISO-abbreviation] Rom J Morphol Embryol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Romania
  • [Chemical-registry-number] 0 / Antigens, CD31; 0 / Antigens, CD34; 0 / LYVE1 protein, human; 0 / Vesicular Transport Proteins
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34. Siponen M, Penna T, Apaja-Sarkkinen M, Palatsi R, Salo T: Solitary angiokeratoma of the tongue. J Oral Pathol Med; 2006 Apr;35(4):252-3
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  • [Title] Solitary angiokeratoma of the tongue.
  • Angiokeratoma is a rare, cutaneous vascular disorder that can occur in several clinically distinct conditions.
  • Oral mucosal involvement is common in the systemic form, but very rare in the localized forms of angiokeratomas.
  • We report the second case of a solitary papular angiokeratoma of the oral cavity.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 16519775.001).
  • [ISSN] 0904-2512
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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35. Möhrenschlager M, Pontz BF, Lanzl I, Podskarbi T, Henkel V, Ring J: Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. J Dtsch Dermatol Ges; 2007 Jul;5(7):594-7
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  • [Title] Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options.
  • A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels.
  • His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood.
  • Possible future options in treatment of Fabry disease are discussed.
  • [MeSH-major] Fabry Disease / drug therapy. Fabry Disease / pathology. alpha-Galactosidase / therapeutic use

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  • (PMID = 17610610.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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36. Yap FB, Pubalan M: Angiokeratoma corporis diffusum. Med J Malaysia; 2008 Oct;63(4):329-30
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  • [Title] Angiokeratoma corporis diffusum.
  • Angiokeratoma is a dark violaceous keratotic papule which can be solitary or multiple.
  • Generalised systemic angiokeratoma constitute angiokeratoma corporis diffusum, a rare X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of alpha galactosidase A.
  • Patients with this disease have premature death due to the vascular complications.
  • A case of possible Fabry's disease is presented.
  • [MeSH-major] Fabry Disease / pathology

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  • (PMID = 19385495.001).
  • [ISSN] 0300-5283
  • [Journal-full-title] The Medical journal of Malaysia
  • [ISO-abbreviation] Med. J. Malaysia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
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37. Ergun S, Mete O, Yeşil S, Tanyeri H: Solitary angiokeratoma of the tongue treated with diode laser. Lasers Med Sci; 2009 Jan;24(1):123-5
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  • [Title] Solitary angiokeratoma of the tongue treated with diode laser.
  • Angiokeratoma is a muco-cutaneous disorder that is usually associated with a number of metabolic disorders.
  • Involvement of the tongue with solitary angiokeratoma, without a systemic or metabolic disease, is very rare.
  • To the best of our knowledge, we report the second case of solitary angiokeratoma of the tongue arising in a 16-year-old woman who was treated with diode laser (810 nm) in our department.
  • [MeSH-major] Angiokeratoma / surgery. Lasers, Semiconductor / therapeutic use. Tongue Neoplasms / surgery

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  • [ErratumIn] Lasers Med Sci. 2009 Jan;24(1):127
  • [Cites] Dermatol Surg. 2006 Sep;32(9):1147-50 [16970695.001]
  • [Cites] J Dermatol. 1988 Aug;15(4):349-50 [3058767.001]
  • [Cites] J Korean Med Sci. 1988 Dec;3(4):169-70 [3267366.001]
  • [Cites] Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2001 Oct;92(4):415-9 [11598576.001]
  • [Cites] Br J Dermatol. 2004 Mar;150(3):620-2 [15030367.001]
  • [Cites] Dermatol Surg. 2005 Feb;31(2):232-6 [15762221.001]
  • [Cites] Lasers Surg Med. 1999;25(5):401-6 [10602132.001]
  • [Cites] Oral Surg Oral Med Oral Pathol. 1990 Mar;69(3):269-73 [2314851.001]
  • [Cites] Dermatology. 1996;193(4):275-82 [8993949.001]
  • [Cites] Lasers Surg Med. 2003;33(2):93-101 [12913880.001]
  • [Cites] Schweiz Monatsschr Zahnmed. 2006;116(8):812-20 [16989115.001]
  • [Cites] Arch Dermatol. 1996 Oct;132(10):1219-22 [8859034.001]
  • [Cites] Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997 Jul;84(1):51-3 [9247950.001]
  • [Cites] J Oral Pathol Med. 2006 Apr;35(4):252-3 [16519775.001]
  • [Cites] Photomed Laser Surg. 2007 Feb;25(1):45-9 [17352637.001]
  • [Cites] J Dermatol. 2004 Nov;31(11):943-5 [15729872.001]
  • [Cites] J Oral Surg. 1976 Jul;34(7):603-8 [819638.001]
  • [Cites] Arch Dermatol. 1986 Mar;122(3):245-6 [3954388.001]
  • [Cites] Arch Pathol Lab Med. 1992 Aug;116(8):880-1 [1497470.001]
  • [Cites] Ther Umsch. 1995 Apr;52(4):230-5 [7754465.001]
  • (PMID = 18057978.001).
  • [ISSN] 0268-8921
  • [Journal-full-title] Lasers in medical science
  • [ISO-abbreviation] Lasers Med Sci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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38. Oni G, Mahaffey P: Treatment of angiokeratoma of the vulva with pulsed dye laser therapy. J Cosmet Laser Ther; 2010 Feb;12(1):51-2
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  • [Title] Treatment of angiokeratoma of the vulva with pulsed dye laser therapy.
  • Angiokeratoma of the vulva is relatively rare with few cases reported in the literature.
  • [MeSH-major] Angiokeratoma / radiotherapy. Lasers, Dye. Low-Level Light Therapy / methods. Skin Neoplasms / radiotherapy. Vulva

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  • (PMID = 19929291.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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39. Karadag AS, Simsek GG: Multiple angiokeratomas on the breast. Indian J Dermatol Venereol Leprol; 2009 Jul-Aug;75(4):451-2
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  • [Title] Multiple angiokeratomas on the breast.
  • [MeSH-major] Angiokeratoma / diagnosis. Breast / pathology. Skin Neoplasms / diagnosis

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  • (PMID = 19584485.001).
  • [ISSN] 0973-3922
  • [Journal-full-title] Indian journal of dermatology, venereology and leprology
  • [ISO-abbreviation] Indian J Dermatol Venereol Leprol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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40. Okuyama R, Masu T, Mizuashi M, Watanabe M, Tagami H, Aiba S: Pseudolymphomatous angiokeratoma: report of three cases and an immunohistological study. Clin Exp Dermatol; 2009 Mar;34(2):161-5
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  • [Title] Pseudolymphomatous angiokeratoma: report of three cases and an immunohistological study.
  • BACKGROUND: Pseudolymphomatous angiokeratoma (PA), originally termed 'acral pseudolymphomatous angiokeratoma of children', is a disorder characterized clinically by development of red nodules on the extremities and histologically by a subepidermal dense lymphocyte infiltrate.
  • [MeSH-major] Angiokeratoma / pathology. B-Lymphocytes / pathology. Skin Neoplasms / pathology. T-Lymphocytes / pathology

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  • (PMID = 18681875.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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41. Bhat S, Pavithra S, Mallya H, Pai G: Verrucous hemangioma: an optimized surgical approach. J Cutan Aesthet Surg; 2010 Sep;3(3):170-3
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  • Ten years ago, an excisional biopsy was performed by a surgeon, and a histopathological diagnosis of angiokeratoma was made.

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  • [Cites] J Am Acad Dermatol. 2000 Mar;42(3):516-8 [10688730.001]
  • [Cites] Dermatol Surg. 2002 Oct;28(10):913-19; discussion 920 [12410675.001]
  • [Cites] Br J Plast Surg. 1965 Apr;18:156-63 [14283445.001]
  • [Cites] Scand J Plast Reconstr Surg. 1983;17(2):153-4 [6658388.001]
  • [Cites] Int J Dermatol. 2004 Oct;43(10):745-6 [15485532.001]
  • [Cites] Indian J Dermatol Venereol Leprol. 2009 Sep-Oct;75(5):528-30 [19736449.001]
  • [Cites] Arch Dermatol. 1967 Sep;96(3):247-53 [6038751.001]
  • (PMID = 21430831.001).
  • [ISSN] 0974-5157
  • [Journal-full-title] Journal of cutaneous and aesthetic surgery
  • [ISO-abbreviation] J Cutan Aesthet Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3047736
  • [Keywords] NOTNLM ; Flaps / graft / verrucous hemangioma / wide excision
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42. Hoffmann B, Mayatepek E: [Fabry disease--a provocation for pediatrics]. Klin Padiatr; 2006 Jan-Feb;218(1):38-40
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  • [Title] [Fabry disease--a provocation for pediatrics].
  • Fabry disease is an inherited metabolic disease caused by the deficiency of the lysosomal enzyme alpha-Galactosidase A.
  • Typically, the disease manifestation is in childhood with acroparaesthesia of burning character in hands and feet.
  • Angioceratoma, cornea verticillata and proteinuria may be found as well at an early stage of the disease.
  • Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease.
  • [MeSH-major] Fabry Disease / diagnosis
  • [MeSH-minor] Adolescent. Adult. Child. Diagnosis, Differential. Disease Progression. Humans. Lymphocytes / enzymology. Male. alpha-Galactosidase / administration & dosage. alpha-Galactosidase / genetics

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  • (PMID = 16432775.001).
  • [ISSN] 0300-8630
  • [Journal-full-title] Klinische Pädiatrie
  • [ISO-abbreviation] Klin Padiatr
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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43. Morais P, Santos AL, Baudrier T, Mota AV, Oliveira JP, Azevedo F: Angiokeratomas of Fabry successfully treated with intense pulsed light. J Cosmet Laser Ther; 2008 Dec;10(4):218-22
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  • [Title] Angiokeratomas of Fabry successfully treated with intense pulsed light.
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A.
  • Angiokeratomas (AKs) are a frequent manifestation of this disease.
  • [MeSH-major] Angiokeratoma / therapy. Fabry Disease / pathology. Phototherapy / methods. Skin Neoplasms / therapy

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  • (PMID = 18830871.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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44. Fauchais AL, Prey S, Ouatara B, Vidal E, Sparsa A: Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? J Eur Acad Dermatol Venereol; 2010 Jun;24(6):737-8
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  • [Title] Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker?
  • [MeSH-major] Angiokeratoma / drug therapy. Enzyme Replacement Therapy / methods. Fabry Disease / drug therapy. Isoenzymes / therapeutic use. Skin Neoplasms / drug therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19925601.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
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45. Capelo J, Soares C, Carragoso A, Ribeiro P, Girão F, Henriques P: [A family with a rare disease]. Acta Med Port; 2010 May-Jun;23(3):499-504
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  • [Title] [A family with a rare disease].
  • Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene.
  • The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations.
  • [MeSH-major] Fabry Disease / genetics

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  • (PMID = 20654270.001).
  • [ISSN] 1646-0758
  • [Journal-full-title] Acta médica portuguesa
  • [ISO-abbreviation] Acta Med Port
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Portugal
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46. Choudhury S, Meehan S, Shin HT: Fabry disease: an atypical presentation. Pediatr Dermatol; 2005 Jul-Aug;22(4):334-7
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  • [Title] Fabry disease: an atypical presentation.
  • Fabry disease is a rare X-linked recessive lysosomal storage disease.
  • Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities.
  • Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease.
  • [MeSH-major] Angiokeratoma / etiology. Fabry Disease / diagnosis. Skin Neoplasms / etiology


47. Al-Mutairi N, Joshi A, Nour-Eldin O: Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce. Acta Derm Venereol; 2006;86(1):92-3
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  • [Title] Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / diagnosis. Lipomatosis / diagnosis. Nevus / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16586009.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Norway
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48. Leis-Dosil VM, Alijo-Serrano F, Aviles-Izquierdo JA, Lazaro-Ochaita P, Lecona-Echeverria M: Angiokeratoma of the glans penis: clinical, histopathological and dermoscopic correlation. Dermatol Online J; 2007;13(2):19
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  • [Title] Angiokeratoma of the glans penis: clinical, histopathological and dermoscopic correlation.
  • Angiokeratoma is a benign vascular lesion characterized by vascular ectasia in the upper dermis and hyperkeratosis.
  • [MeSH-major] Angiokeratoma / pathology. Penis / pathology. Skin Neoplasms / pathology

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  • (PMID = 17498438.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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49. Karen JK, Hale EK, Ma L: Angiokeratoma corporis diffusum (Fabry disease). Dermatol Online J; 2005;11(4):8
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  • [Title] Angiokeratoma corporis diffusum (Fabry disease).
  • Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs.
  • The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.
  • [MeSH-major] Fabry Disease / pathology. Skin Diseases, Genetic / pathology

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  • (PMID = 16403380.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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50. Erkek E, Basar MM, Bagci Y, Karaduman A, Bilen CY, Gokoz A: Fordyce angiokeratomas as clues to local venous hypertension. Arch Dermatol; 2005 Oct;141(10):1325-6
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  • [Title] Fordyce angiokeratomas as clues to local venous hypertension.
  • [MeSH-major] Angiokeratoma / pathology. Genital Neoplasms, Male / pathology. Penis / pathology. Scrotum / pathology. Skin Neoplasms / pathology

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  • (PMID = 16230581.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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51. Sahin MT, Türel-Ermertcan A, Oztürkcan S, Türkdogan P: Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis. J Eur Acad Dermatol Venereol; 2006 Jan;20(1):102-4
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  • [Title] Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis.
  • [MeSH-major] Angiokeratoma / diagnosis. Dermoscopy. Thrombosis / diagnosis

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  • (PMID = 16405622.001).
  • [ISSN] 0926-9959
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
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52. Cybulla M, Walter K, Neumann HP, Widmer U, Schärer M, Sunder-Plassmann G, Jansen T, Rolfs A, Beck M: [Fabry disease: demographic data since introduction of enzyme replacement therapy]. Dtsch Med Wochenschr; 2007 Jul 5;132(28-29):1505-9
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  • [Title] [Fabry disease: demographic data since introduction of enzyme replacement therapy].
  • BACKGROUND AND OBJECTIVE: Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder.
  • The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated.
  • As it is a rare and not widely known disease with considerable variability of its symptoms it is often not or only belatedly diagnosed.
  • It was the aim of this study to analyse the demography and clinical expression of the disease.
  • PATIENTS AND METHODS: Data were obtained from the Fabry Outcome Survey (FOS), a Europe-wide data bank for the documentation of the disease's clinical course, on 262 patients (130 males, 132 females; mean age 37.5 and 34 years, respectively on entry in the FOS) in Germany, Switzerland and Austria.
  • RESULTS: Typical symptoms - acroparesthesias, joint pain, hypohidrosis, fever and angiokeratoma - have their onset in childhood (mean age nine years).
  • Main causes of morbidity and death in Fabry's disease are involvement of the kidneys or heart, the one or other occurring in 75% of patients.
  • CONCLUSIONS: It is of great importance for the prognosis and quality that Fabry's disease is diagnosed as early as possible and treated adequately before the onset of organ damage.
  • If the listed symptoms by themselves remain unexplained, Fabry's disease should be considered in the differential diagnosis.
  • National and international observational studies, such as the FOS, significantly contribute to gaining important clinical data on this heterogeneous disease.
  • [MeSH-major] Fabry Disease / drug therapy. Fabry Disease / epidemiology


53. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB, FOS Investigators: Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol; 2007 Aug;157(2):331-7
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  • [Title] Fabry disease and the skin: data from FOS, the Fabry outcome survey.
  • BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
  • OBJECTIVES: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.
  • METHODS: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.
  • RESULTS: We confirm that the commonest disease manifestation is angiokeratoma.
  • Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females).
  • We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system.
  • CONCLUSIONS: The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease.
  • The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.
  • [MeSH-major] Fabry Disease / complications. Skin Diseases / etiology
  • [MeSH-minor] Adolescent. Adult. Age Factors. Angiokeratoma / epidemiology. Angiokeratoma / etiology. Angiokeratoma / pathology. Child. Europe / epidemiology. Female. Humans. Hypohidrosis / epidemiology. Hypohidrosis / etiology. Lymphedema / epidemiology. Lymphedema / etiology. Male. Middle Aged. Prevalence. Severity of Illness Index. Sex Factors. Skin Neoplasms / epidemiology. Skin Neoplasms / etiology. Skin Neoplasms / pathology. Telangiectasis / epidemiology. Telangiectasis / etiology. Telangiectasis / pathology


54. Ramaswami U: Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa. Acta Paediatr; 2008 Apr;97(457):38-40
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  • [Title] Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.
  • Fabry disease is a rare X-linked disorder that leads to widespread and progressive disease manifestations, with patients at risk of premature mortality as a result of renal, cardiovascular or cerebrovascular complications.
  • In recent years there has been a growing awareness that the first signs and symptoms of Fabry disease may begin during childhood.
  • Studies show that clinical manifestations such as pain, hypohidrosis, gastrointestinal disturbances, angiokeratomas, cornea verticillata and acroparaesthesiae may be common in childhood and that such manifestations may become apparent during the first few years of life.
  • Interest is now focused on whether enzyme replacement therapy can slow or prevent the onset of these disease manifestations.
  • Preliminary data from two studies suggest that treatment with agalsidase alfa is well tolerated in children and that it may have beneficial clinical effects; however, further research is needed to determine whether enzyme replacement therapy can prevent the development of disease manifestations.
  • CONCLUSION: The manifestations of Fabry disease first become apparent during childhood.
  • It is well known that disease-associated manifestations are progressive; however, it has yet to be determined whether specific treatment with enzyme replacement therapy can prevent the development of the associated severe and life-threatening complications.
  • [MeSH-major] Fabry Disease / diagnosis. Fabry Disease / drug therapy. Isoenzymes / therapeutic use. alpha-Galactosidase / therapeutic use

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  • (PMID = 18339186.001).
  • [ISSN] 1651-2227
  • [Journal-full-title] Acta paediatrica (Oslo, Norway : 1992)
  • [ISO-abbreviation] Acta Paediatr.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Norway
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 14
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55. Khatami A, Ghorbani Z, Gorouhi F, Davari P, Firooz A: Angiokeratoma and epidermal nevus. Eur J Dermatol; 2008 Jan-Feb;18(1):100-1
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  • [Title] Angiokeratoma and epidermal nevus.
  • [MeSH-major] Angiokeratoma / pathology. Nevus / pathology. Skin Neoplasms / pathology


56. Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A: Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol; 2007 Sep;57(3):407-12
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  • [Title] Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
  • OBJECTIVES: We report here a 36-year-old Arab female with beta-mannosidosis who presented with mental retardation and multiple angiokeratomas.
  • RESULTS: Histopathology of a skin biopsy specimen from the patient showed the characteristic findings of angiokeratoma.
  • The importance of angiokeratoma corporis diffusum as the clue to the diagnosis of beta-mannosidosis and other lysosomal storage diseases is emphasized.
  • [MeSH-major] Arabs / genetics. Codon, Nonsense. Fabry Disease / etiology. beta-Mannosidase / genetics. beta-Mannosidosis / complications. beta-Mannosidosis / genetics


57. Yaqoob N, Ahsan A, Ahmed Z, Husain A, Ahmed R, Kayani N, Pervez S, Hassan S: Angiokeratoma of tongue: a series of 14 cases. J Pak Med Assoc; 2006 Jun;56(6):285-7
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  • [Title] Angiokeratoma of tongue: a series of 14 cases.
  • Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
  • Only three other cases of isolated mucosal angiokeratoma have been reported in the indexed literature.
  • We reviewed all cases of angiokeratoma located on the tongue, diagnosed in our department during a study period of 10 years (1995-2005).
  • No clinical data was available to assess systemic disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Fabry Disease / diagnosis. Female. Humans. Male

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  • (PMID = 16827254.001).
  • [ISSN] 0030-9982
  • [Journal-full-title] JPMA. The Journal of the Pakistan Medical Association
  • [ISO-abbreviation] J Pak Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Pakistan
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58. Gupta S, Ries M, Kotsopoulos S, Schiffmann R: The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore); 2005 Sep;84(5):261-8
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  • [Title] The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.
  • Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of alpha-galactosidase A (alpha-Gal A) resulting in the storage of glycosphingolipids, especially globotriaosylceramide (Gb3), in cells throughout the body, causing life-threatening renal, cardiac, and cerebrovascular complications in hemizygous males and some heterozygous females.
  • Disease manifestations in heterozygotes are being recognized increasingly, but quantitative prospective data on their extent and severity are limited.
  • Prospective clinical and laboratory assessments were performed in a 7-day study of 61 women with signs and symptoms of Fabry disease.
  • Angiokeratomas and corneal epitheliopathy were documented in 63% and 82% of the 57 patients, respectively.
  • Despite the virtual absence of storage material in plasma and skin vascular endothelial cells, this population of women with Fabry disease exhibited a wide spectrum of clinical abnormalities.
  • [MeSH-major] Blood Vessels / abnormalities. Cardiovascular Abnormalities / diagnosis. Fabry Disease / physiopathology. Glycosphingolipids / metabolism. Heterozygote. Trihexosylceramides / metabolism

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  • (PMID = 16148726.001).
  • [ISSN] 0025-7974
  • [Journal-full-title] Medicine
  • [ISO-abbreviation] Medicine (Baltimore)
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / NS002984-05; United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Glycosphingolipids; 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide
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59. Marchesoni CL, Roa N, Pardal AM, Neumann P, Cáceres G, Martínez P, Kisinovsky I, Bianchi S, Tarabuso AL, Reisin RC: Misdiagnosis in Fabry disease. J Pediatr; 2010 May;156(5):828-31
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  • [Title] Misdiagnosis in Fabry disease.
  • OBJECTIVE: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.
  • STUDY DESIGN: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females.
  • Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae.
  • CONCLUSIONS: Pediatricians as well as internists commonly misdiagnose Fabry disease.
  • Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.
  • [MeSH-major] Diagnostic Errors. Fabry Disease / diagnosis

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  • (PMID = 20385321.001).
  • [ISSN] 1097-6833
  • [Journal-full-title] The Journal of pediatrics
  • [ISO-abbreviation] J. Pediatr.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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60. Turkmen M, Kavukçu S, Çakmakci H, Soylu A, Aktan S, Çağan Y: A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. Int Urol Nephrol; 2010 Sep;42(3):575-8
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  • We present a girl of KTWS associated with hypertrophied left kidney, enlargement in venous structures of the left kidney, recurrent bloody vaginal discharge and angiokeratomas.
  • Angiokeratoma may be considered as a dermatological finding of KTWS.

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  • [Cites] J Urol. 1994 Feb;151(2):404-5 [8283536.001]
  • [Cites] Int J Dermatol. 2006 Aug;45(8):883-90 [16911369.001]
  • [Cites] J Urol. 2007 Apr;177(4):1244-9 [17382698.001]
  • [Cites] Arch Dermatol. 2006 May;142(5):615-8 [16702499.001]
  • [Cites] Eur J Clin Invest. 2004 Mar;34(3):236-42 [15025684.001]
  • [Cites] AJR Am J Roentgenol. 1996 Oct;167(4):989-95 [8819399.001]
  • [Cites] J Urol. 2001 Oct;166(4):1418-20 [11547101.001]
  • [Cites] Int J Urol. 2007 Jul;14(7):658-60 [17645615.001]
  • [Cites] Clin Genet. 2001 Jul;60(1):63-7 [11531972.001]
  • [Cites] Z Haut Geschlechtskr. 1969 Nov 1;44(21):905-13 [5396788.001]
  • [Cites] Ann Surg. 1985 Mar;201(3):365-73 [2983626.001]
  • [Cites] BJU Int. 2006 Feb;97(2):327-8 [16430639.001]
  • [Cites] Z Hautkr. 1979 Aug 1;54(15):701-6 [225899.001]
  • [Cites] Int Urol Nephrol. 2006;38(1):137-40 [16502069.001]
  • [Cites] Cutis. 1997 Sep;60(3):127-32 [9314616.001]
  • (PMID = 19768566.001).
  • [ISSN] 1573-2584
  • [Journal-full-title] International urology and nephrology
  • [ISO-abbreviation] Int Urol Nephrol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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61. AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales): [Evaluation of patients with Fabry disease in Argentina]. Medicina (B Aires); 2010;70(1):37-43
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  • [Title] [Evaluation of patients with Fabry disease in Argentina].
  • Fabry disease is an X- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase A which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement.
  • Recent studies indicate that heterozygous females develop symptoms similar to the males, but comparative information regarding the relative frequency of clinical manifestations, age of onset and severity of the disorder between males and females with Fabry disease is not available in Argentina.
  • We identified 59 symptomatic adult patients with Fabry disease: 32 males (mean age 34.8 years) and 27 females (mean age 46.6 years).
  • We compared the frequency and severity of the clinical manifestations in females and males with this disease.
  • The most frequent manifestations were: acroparesthesias, angiokeratomas, hypohydrosis (all them were significantly more frequent in males than in females, as well as the severity of symptoms), and cornea verticillata.
  • Fabry disease is an underdiagnosed and potentially fatal disorder that affects both sexes.
  • [MeSH-major] Fabry Disease / diagnosis. alpha-Galactosidase / genetics
  • [MeSH-minor] Adult. Aged. Angiokeratoma / diagnosis. Angiokeratoma / etiology. Argentina. Corneal Opacity / diagnosis. Corneal Opacity / etiology. Female. Heterozygote. Humans. Hypertrophy, Left Ventricular / diagnosis. Hypertrophy, Left Ventricular / etiology. Male. Middle Aged. Mutation. Severity of Illness Index. Sex Factors. Young Adult

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  • (PMID = 20228022.001).
  • [ISSN] 0025-7680
  • [Journal-full-title] Medicina
  • [ISO-abbreviation] Medicina (B Aires)
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Argentina
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
  • [Investigator] Doxastakis G; Ferrari G; Ana María E; Kisinovsky I; Cáceres G; Bianchi S; Aguilar R; Aggio M; Tarabuso A; Peralta I; Reisin R; Nápoli G; Pardal A; Marchesoni C; Neumann P; Ebner R; Martínez P; Penna J; Rozenfeld P
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62. Liapis A, Bakalianou K, Salakos N, Iavazzo C, Dalainas I, Kondi-Pafiti A: Vascular tumors: rare neoplasms of the female genital tract. Eur J Gynaecol Oncol; 2009;30(2):220-2
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  • More specifically, we identified one patient with angiomyxoma, five patients with angiokeratoma, one patient with vascular malformation, two with cervical hemangioma, two with hemangioma of the uterus and two with ovarian hemangioma.
  • [MeSH-minor] Adult. Aged. Angiokeratoma / pathology. Female. Hemangioma / pathology. Humans. Middle Aged. Myxoma / pathology

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  • (PMID = 19480262.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
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63. Luzar B, Neil SM, Calonje E: Angiokeratoma-like changes in extragenital and genital lichen sclerosus. J Cutan Pathol; 2009 May;36(5):540-2
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  • [Title] Angiokeratoma-like changes in extragenital and genital lichen sclerosus.
  • They were in close proximity to and even in contact with the overlying epidermis and thus mimicked an angiokeratoma.
  • Angiokeratoma-like changes in lichen sclerosus represent secondary features because of damage to the dermis by lichen sclerosus and are characterized histologically by ectatic thin-walled vascular spaces in the papillary dermis intimately associated with the epidermis.
  • [MeSH-minor] Adolescent. Aged. Angiokeratoma / pathology. Diagnosis, Differential. Female. Humans. Male. Middle Aged. Skin Neoplasms / pathology

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  • (PMID = 19187108.001).
  • [ISSN] 1600-0560
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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64. Rákóczi E, Görögh S, Grubits J, Erdos M, Garzuly F, Hahn K, Bencsik K, Vécsei L, Trinn C, Kristóf E, Mogyorósy G, Tóth B, Maródi L: [Molecular pathology and clinical manifestations of Fabry disease]. Orv Hetil; 2007 Jun 10;148(23):1087-94
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  • [Title] [Molecular pathology and clinical manifestations of Fabry disease].
  • Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme.
  • Major clinical manifestations include acroparesthesis, angiokeratoma, corneal opacities, vascular diseases of the heart, kidney, and the central nervous system.
  • In this review the authors describe clinical features of Fabry disease in 31 Hungarian patients.
  • The most common disease-specific manifestation was angiokeratoma in males, and eye symptoms in females.
  • Genotyping was performed in all cases and disease-causing mutations were found in all families.
  • [MeSH-major] Fabry Disease / diagnosis. Fabry Disease / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Angiokeratoma / etiology. Brain Ischemia / etiology. Child. Child, Preschool. Female. Genetic Predisposition to Disease. Heterozygote. Homozygote. Humans. Kidney / pathology. Male. Middle Aged. Proteinuria / etiology

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  • (PMID = 17545117.001).
  • [ISSN] 0030-6002
  • [Journal-full-title] Orvosi hetilap
  • [ISO-abbreviation] Orv Hetil
  • [Language] hun
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Hungary
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65. del Pozo J, Fonseca E: Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. Dermatol Surg; 2005 Feb;31(2):232-6
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  • [Title] Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization.
  • BACKGROUND: Angiokeratoma circumscriptum naeviforme (ACN) is an unusual type of localized angiokeratoma that occurs more frequently in females and is usually located on the buttocks or thighs, showing a unilateral distribution.
  • Carbon-dioxide laser is a known alternative for treating angiokeratomas.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / surgery. Skin Neoplasms / diagnosis. Skin Neoplasms / surgery

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  • (PMID = 15762221.001).
  • [ISSN] 1076-0512
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 142M471B3J / Carbon Dioxide
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66. Yiğiter M, Arda IS, Tosun E, Celik M, Hiçsönmez A: Angiokeratoma of clitoris: a rare lesion in an adolescent girl. Urology; 2008 Apr;71(4):604-6
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  • [Title] Angiokeratoma of clitoris: a rare lesion in an adolescent girl.
  • Angiokeratoma is a benign vascular lesion.
  • Angiokeratoma is more common in males, in whom it forms on the scrotal wall.
  • We present the case of a 14-year-old girl with a clitoral angiokeratoma.
  • To our knowledge, this is the first presented case of clitoral angiokeratoma in a child in English published reports.
  • [MeSH-major] Angiokeratoma / pathology. Clitoris. Skin Neoplasms / pathology

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  • (PMID = 18291515.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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67. Germain DP: Fabry disease. Orphanet J Rare Dis; 2010;5:30
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  • [Title] Fabry disease.
  • Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
  • FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease.
  • Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe.
  • A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated.
  • End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population.
  • While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / genetics

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  • [Cites] Dement Geriatr Cogn Disord. 1997 Jul-Aug;8(4):252-7 [9213072.001]
  • [Cites] J Inherit Metab Dis. 1997 Sep;20(5):643-57 [9323559.001]
  • [Cites] FEBS Lett. 1997 Nov 3;417(1):89-91 [9395081.001]
  • [Cites] Hum Mutat. 1998;Suppl 1:S288-90 [9452111.001]
  • [Cites] Brain Pathol. 1998 Jan;8(1):195-215 [9458176.001]
  • [Cites] Can J Cardiol. 1998 Jan;14(1):81-4 [9487277.001]
  • [Cites] Neurology. 1998 Jun;50(6):1746-9 [9633721.001]
  • [Cites] Am J Hum Genet. 1998 Aug;63(2):415-27 [9683600.001]
  • [Cites] Nat Med. 1999 Jan;5(1):112-5 [9883849.001]
  • [Cites] JAMA. 1999 Jan 20;281(3):249-54 [9918480.001]
  • [Cites] Biochem Biophys Res Commun. 1999 Apr 21;257(3):708-13 [10208848.001]
  • [Cites] Neurology. 1999 May 12;52(8):1663-7 [10331696.001]
  • [Cites] Proc Natl Acad Sci U S A. 1999 May 25;96(11):6423-7 [10339603.001]
  • [Cites] Hum Genet. 1999 Jul-Aug;105(1-2):151-6 [10480370.001]
  • [Cites] Nature. 1961 Apr 22;190:372-3 [13764598.001]
  • [Cites] J Biol Chem. 1963 Sep;238:3148-50 [14081947.001]
  • [Cites] Gastroenterology. 1965 May;48:625-33 [14280390.001]
  • [Cites] Lancet Neurol. 2004 Dec;3(12):752-6 [15556808.001]
  • [Cites] Psychiatr Genet. 2004 Dec;14(4):199-201 [15564893.001]
  • [Cites] Eur J Clin Invest. 2004 Dec;34(12):838-44 [15606727.001]
  • [Cites] J Inherit Metab Dis. 2004;27(6):791-3 [15617195.001]
  • [Cites] Muscle Nerve. 2005 Jan;31(1):102-7 [15389653.001]
  • [Cites] Am J Med Genet A. 2004 Aug 30;129A(2):136-43 [15316978.001]
  • [Cites] Clin Exp Immunol. 2004 Sep;137(3):496-502 [15320898.001]
  • [Cites] Kidney Int. 2004 Sep;66(3):978-82 [15327390.001]
  • [Cites] Kidney Int. 2004 Sep;66(3):1279-82 [15327428.001]
  • [Cites] Circulation. 2001 Sep 25;104(13):1506-12 [11571244.001]
  • [Cites] Mutat Res. 2001 Nov 1;483(1-2):89-94 [11600137.001]
  • [Cites] Hum Mutat. 2001 Nov;18(5):459 [11668641.001]
  • [Cites] Contrib Nephrol. 2001;(136):234-40 [11688386.001]
  • [Cites] Contrib Nephrol. 2001;(136):241-4 [11688387.001]
  • [Cites] Contrib Nephrol. 2001;(136):245-50 [11688388.001]
  • [Cites] J Med Genet. 2001 Nov;38(11):750-60 [11694547.001]
  • [Cites] J Med Genet. 2001 Nov;38(11):769-75 [11732485.001]
  • [Cites] J Inherit Metab Dis. 2001;24 Suppl 2:66-70; discussion 65 [11758681.001]
  • [Cites] Kidney Int. 2002 Jan;61(1):249-55 [11786107.001]
  • [Cites] J Inherit Metab Dis. 2001 Dec;24(7):715-24 [11804208.001]
  • [Cites] Stroke. 2002 Feb;33(2):525-31 [11823664.001]
  • [Cites] Medicine (Baltimore). 2002 Mar;81(2):122-38 [11889412.001]
  • [Cites] Circulation. 2002 Mar 26;105(12):1407-11 [11914245.001]
  • [Cites] Qual Life Res. 2002 Mar;11(2):127-33 [12018736.001]
  • [Cites] Expert Opin Investig Drugs. 2002 Jun;11(6):851-8 [12036428.001]
  • [Cites] Qual Life Res. 2002 Jun;11(4):317-27 [12086117.001]
  • [Cites] J Soc Biol. 2002;196(2):161-73 [12360745.001]
  • [Cites] J Soc Biol. 2002;196(2):183-90 [12360747.001]
  • [Cites] Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13777-82 [12370426.001]
  • [Cites] Expert Opin Investig Drugs. 2002 Oct;11(10):1467-76 [12387706.001]
  • [Cites] J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74 [12427421.001]
  • [Cites] Clin Chem. 2004 Oct;50(10):1785-96 [15292070.001]
  • [Cites] Kidney Int. 2004 Oct;66(4):1589-95 [15458455.001]
  • [Cites] Biochim Biophys Acta. 2004 Nov 5;1690(3):250-7 [15511632.001]
  • [Cites] N Engl J Med. 1967 May 25;276(21):1163-7 [6023233.001]
  • [Cites] Nature. 1970 Sep 12;227(5263):1173 [5451124.001]
  • [Cites] Neurology. 1973 Aug;23(8):871-5 [4578349.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1053-62 [4204059.001]
  • [Cites] Science. 1975 Jul 18;189(4198):186-94 [1138375.001]
  • [Cites] Pediatrics. 1976 Aug;58(2):259-63 [951142.001]
  • [Cites] Arch Dis Child. 1976 Nov;51(11):875-8 [1008594.001]
  • [Cites] Am Heart J. 1977 Jun;93(6):699-705 [140598.001]
  • [Cites] Arch Fr Pediatr. 1977 Oct;34(8):704-16 [412484.001]
  • [Cites] Kidney Int. 1978 Mar;13(3):223-35 [418264.001]
  • [Cites] Arch Ophthalmol. 1979 Apr;97(4):671-6 [106811.001]
  • [Cites] Am J Med. 1980 Jun;68(6):898-905 [6247911.001]
  • [Cites] Clin Chim Acta. 1981 May 5;112(2):247-51 [6263521.001]
  • [Cites] Am J Gastroenterol. 1981 Sep;76(3):246-51 [6274188.001]
  • [Cites] J Electrocardiol. 1982 Apr;15(2):153-6 [6461709.001]
  • [Cites] Neurology. 1982 May;32(5):498-502 [6803189.001]
  • [Cites] Annu Rev Biochem. 1991;60:257-80 [1883197.001]
  • [Cites] Acta Neurol Belg. 1992;92(1):36-40 [1546524.001]
  • [Cites] Br Heart J. 1992 Sep;68(3):323-5 [1389767.001]
  • [Cites] J Med Genet. 1993 Aug;30(8):658-63 [8411052.001]
  • [Cites] Neurology. 1993 Sep;43(9):1683-9 [8414012.001]
  • [Cites] Am J Hum Genet. 1993 Dec;53(6):1186-97 [7504405.001]
  • [Cites] Biochem Biophys Res Commun. 1993 Dec 30;197(3):1585-9 [7904161.001]
  • [Cites] Hum Mutat. 1994;3(2):103-11 [7911050.001]
  • [Cites] Hum Mol Genet. 1994 Mar;3(3):503-5 [8012363.001]
  • [Cites] N Engl J Med. 1995 Aug 3;333(5):288-93 [7596372.001]
  • [Cites] Pediatr Neurol. 1995 Apr;12(3):250-1 [7619194.001]
  • [Cites] Biochem Biophys Res Commun. 1995 Sep 25;214(3):1219-24 [7575533.001]
  • [Cites] Pediatr Dermatol. 1995 Sep;12(3):215-9 [7501549.001]
  • [Cites] Ann Neurol. 1996 Jul;40(1):8-17 [8687196.001]
  • [Cites] Biochem Mol Med. 1996 Apr;57(2):139-48 [8733892.001]
  • [Cites] Hum Mutat. 1996;8(1):38-43 [8807334.001]
  • [Cites] J Med Genet. 1996 Aug;33(8):682-8 [8863162.001]
  • [Cites] Eur J Hum Genet. 1996;4(4):219-24 [8875188.001]
  • [Cites] Hum Genet. 1996 Dec;98(6):719-26 [8931708.001]
  • [Cites] Urology. 1996 Dec;48(6):949-52 [8973687.001]
  • [Cites] Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2540-4 [9122231.001]
  • [Cites] Am J Respir Crit Care Med. 1997 Mar;155(3):1004-10 [9116979.001]
  • [Cites] Mol Med. 1997 Mar;3(3):174-82 [9100224.001]
  • [Cites] Lancet Neurol. 2006 Sep;5(9):791-5 [16914407.001]
  • [Cites] Clin Nephrol. 2006 Aug;66(2):77-84 [16939062.001]
  • [Cites] Pediatrics. 2006 Sep;118(3):924-32 [16950982.001]
  • [Cites] J Inherit Metab Dis. 2006 Oct;29(5):653-9 [16972173.001]
  • [Cites] Genet Med. 2006 Sep;8(9):539-48 [16980809.001]
  • [Cites] Mol Genet Metab. 2006 Nov;89(3):239-44 [16765076.001]
  • [Cites] Eur J Med Genet. 2006 Sep-Oct;49(5):419-25 [16510324.001]
  • [Cites] Cardiovasc Hematol Agents Med Chem. 2006 Oct;4(4):289-97 [17073606.001]
  • [Cites] J Clin Endocrinol Metab. 2006 Nov;91(11):4319-25 [16926253.001]
  • [Cites] J Med Assoc Thai. 2006 Sep;89(9):1528-35 [17100396.001]
  • [Cites] Neurology. 2006 Dec 12;67(11):2045-7 [17159117.001]
  • [Cites] Brain. 2007 Jan;130(Pt 1):143-50 [17105746.001]
  • [Cites] Acta Paediatr. 2007 Jan;96(1):122-7 [17187618.001]
  • [Cites] Ann Intern Med. 2007 Jan 16;146(2):77-86 [17179052.001]
  • [Cites] J Inherit Metab Dis. 2007 Feb;30(1):106 [17171433.001]
  • [Cites] J Inherit Metab Dis. 2007 Feb;30(1):68-78 [17206462.001]
  • [Cites] Br J Ophthalmol. 2007 Feb;91(2):210-4 [16973664.001]
  • [Cites] J Inherit Metab Dis. 2007 Apr;30(2):184-92 [17347915.001]
  • [Cites] Clin Neurol Neurosurg. 2007 May;109(4):361-3 [17234336.001]
  • [Cites] Acta Paediatr Suppl. 2007 Apr;96(455):6-16 [17391432.001]
  • [Cites] Acta Paediatr Suppl. 2007 Apr;96(455):33-6 [17391437.001]
  • [Cites] Heart. 2007 Apr;93(4):528-35 [17401074.001]
  • [Cites] Lymphat Res Biol. 2003;1(3):185-9 [15624436.001]
  • [Cites] FASEB J. 2005 Jan;19(1):12-8 [15629890.001]
  • [Cites] Curr Opin Nephrol Hypertens. 2005 Mar;14(2):87-95 [15687833.001]
  • [Cites] Kidney Int. 2003 Sep;64(3):801-7 [12911529.001]
  • [Cites] Hum Mutat. 2003 Sep;22(3):258 [12938095.001]
  • [Cites] J Inherit Metab Dis. 2003;26(4):413-4 [12971431.001]
  • [Cites] Circulation. 2003 Sep 16;108(11):1299-301 [12952834.001]
  • [Cites] Mol Genet Metab. 2003 Nov;80(3):307-14 [14680977.001]
  • [Cites] Hum Pathol. 2003 Dec;34(12):1358; author reply 1358-9 [14691926.001]
  • [Cites] J Inherit Metab Dis. 2003;26(7):617-27 [14707510.001]
  • [Cites] Eur J Hum Genet. 2004 Feb;12(2):87-92 [14685153.001]
  • [Cites] Clin Genet. 2004 Feb;65(2):77-86 [14984463.001]
  • [Cites] Acta Paediatr Suppl. 2003 Dec;92(443):14-5; discussion 5 [14989460.001]
  • [Cites] Acta Paediatr Suppl. 2003 Dec;92(443):33-7; discussion 27 [14989464.001]
  • [Cites] J Mol Biol. 2004 Mar 19;337(2):319-35 [15003450.001]
  • [Cites] Rev Prat. 2003 Dec 31;53(20):2215-20 [15018073.001]
  • [Cites] Clin Genet. 2004 Apr;65(4):299-307 [15025723.001]
  • [Cites] Brain Dev. 2004 Sep;26(6):363-6 [15275696.001]
  • [Cites] Curr Opin Cardiol. 2004 Sep;19(5):452-7 [15316452.001]
  • [Cites] Nucl Med Commun. 1998 Sep;19(9):887-91 [10581595.001]
  • [Cites] Ann Neurol. 2000 Feb;47(2):229-33 [10665494.001]
  • [Cites] Pain. 2000 Feb;84(2-3):361-5 [10666542.001]
  • [Cites] Mol Med. 1999 Dec;5(12):806-11 [10666480.001]
  • [Cites] Am Heart J. 2000 Jun;139(6):1101-8 [10827394.001]
  • [Cites] Biochim Biophys Acta. 2000 Jun 15;1501(2-3):227-35 [10838196.001]
  • [Cites] J Clin Invest. 2000 Jun;105(11):1563-71 [10841515.001]
  • [Cites] Proc Natl Acad Sci U S A. 2000 Jun 20;97(13):7515-20 [10840053.001]
  • [Cites] Transplantation. 2000 Jun 15;69(11):2337-9 [10868636.001]
  • [Cites] J Investig Med. 2000 Jul;48(4):227-35 [10916280.001]
  • [Cites] Clin Genet. 2000 Sep;58(3):228-33 [11076046.001]
  • [Cites] Rev Med Interne. 2000 Dec;21(12):1086-103 [11191676.001]
  • [Cites] Am J Hum Genet. 2001 Jan;68(1):14-25 [11115376.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2676-81 [11226298.001]
  • [Cites] Hum Mutat. 2001 Apr;17(4):353 [11295840.001]
  • [Cites] J Hum Genet. 2001;46(4):192-6 [11322659.001]
  • [Cites] JAMA. 2001 Jun 6;285(21):2743-9 [11386930.001]
  • [Cites] N Engl J Med. 2001 Jul 5;345(1):9-16 [11439963.001]
  • [Cites] N Engl J Med. 2001 Jul 5;345(1):25-32 [11439944.001]
  • [Cites] Clin Chim Acta. 2001 Jun;308(1-2):195-6 [11432396.001]
  • [Cites] Clin Genet. 2001 Jul;60(1):46-51 [11531969.001]
  • [Cites] Clin Genet. 2001 Jul;60(1):63-7 [11531972.001]
  • [Cites] J Med Genet. 2001 Sep;38(9):629-31 [11565551.001]
  • [Cites] Anal Bioanal Chem. 2005 Jul;382(5):1209-16 [15959771.001]
  • [Cites] J Pediatr. 2005 Jul;147(1):102-5 [16027705.001]
  • [Cites] Neurology. 2005 Aug 23;65(4):600-2 [16116124.001]
  • [Cites] J Inherit Metab Dis. 2005;28(5):715-22 [16151903.001]
  • [Cites] J Inherit Metab Dis. 2005;28(5):787-8 [16151910.001]
  • [Cites] J Inherit Metab Dis. 2005;28(5):803-5 [16151917.001]
  • [Cites] Am J Cardiol. 2005 Sep 15;96(6):842-6 [16169374.001]
  • [Cites] Clin Exp Nephrol. 2005 Sep;9(3):228-32 [16189631.001]
  • [Cites] Respiration. 2005 Sep-Oct;72(5):504-11 [16210890.001]
  • [Cites] Pacing Clin Electrophysiol. 2005 Oct;28(10):1142-3 [16221278.001]
  • [Cites] Clin Chem Lab Med. 2005;43(11):1276-7 [16232095.001]
  • [Cites] Lancet. 2005 Nov 19;366(9499):1794-6 [16298216.001]
  • [Cites] J Mass Spectrom. 2006 Jan;41(1):50-8 [16287034.001]
  • [Cites] Nephrol Dial Transplant. 2006 Feb;21(2):345-54 [16204287.001]
  • [Cites] Nephrol Dial Transplant. 2006 Feb;21(2):355-60 [16249196.001]
  • [Cites] Acta Paediatr. 2006 Jan;95(1):86-92 [16498740.001]
  • [Cites] Heart. 2006 Mar;92(3):357-60 [16085718.001]
  • [Cites] Virchows Arch. 2006 Mar;448(3):337-43 [16315019.001]
  • [Cites] Am J Physiol Cell Physiol. 2006 Apr;290(4):C1076-82 [16531566.001]
  • [Cites] Acta Neuropathol. 2006 Feb;111(2):178-85 [16463201.001]
  • [Cites] J Hum Genet. 2006;51(3):180-8 [16372133.001]
  • [Cites] Arterioscler Thromb Vasc Biol. 2006 Apr;26(4):839-44 [16469946.001]
  • [Cites] Kidney Int. 2002 Dec;62(6):1933-46 [12427118.001]
  • [Cites] Mol Med. 2002 Jun;8(6):306-12 [12428061.001]
  • [Cites] J Clin Neurophysiol. 2002 Dec;19(6):575-86 [12488789.001]
  • [Cites] J Am Geriatr Soc. 1985 Apr;33(4):278-85 [3989190.001]
  • [Cites] J Am Coll Cardiol. 1986 May;7(5):1157-61 [3082958.001]
  • [Cites] Proc Natl Acad Sci U S A. 1986 Jul;83(13):4859-63 [3014515.001]
  • [Cites] Postgrad Med J. 1986 Oct;62(732):969 [3095821.001]
  • [Cites] Br Heart J. 1987 Mar;57(3):296-9 [3105563.001]
  • [Cites] J Am Acad Dermatol. 1987 Nov;17(5 Pt 2):883-7 [3119682.001]
  • [Cites] Arch Neurol. 1988 Apr;45(4):468-72 [3128256.001]
  • [Cites] Neurology. 1989 Apr;39(4):598-600 [2494569.001]
  • [Cites] J Clin Invest. 1989 Apr;83(4):1390-9 [2539398.001]
  • [Cites] Nucleic Acids Res. 1989 Apr 25;17(8):3301-2 [2542896.001]
  • [Cites] Am J Obstet Gynecol. 1990 Feb;162(2):464-5 [2155532.001]
  • [Cites] J Lipid Res. 1990 Feb;31(2):335-40 [2157788.001]
  • [Cites] J Biol Chem. 1990 Jun 5;265(16):9319-26 [2160973.001]
  • [Cites] Am J Hum Genet. 1990 Nov;47(5):784-9 [2171331.001]
  • [Cites] Virchows Arch A Pathol Anat Histopathol. 1990;417(5):449-55 [2173254.001]
  • [Cites] N Engl J Med. 1991 Feb 7;324(6):395-9 [1846223.001]
  • [Cites] Heart. 2008 Feb;94(2):153-8 [17483124.001]
  • [Cites] Mol Genet Metab. 2008 Feb;93(2):112-28 [18037317.001]
  • [Cites] Hum Mutat. 2008 Feb;29(2):331 [18205205.001]
  • [Cites] Mol Biotechnol. 2008 Feb;38(2):109-19 [18219591.001]
  • [Cites] J Genet Couns. 2008 Feb;17(1):79-83 [18172746.001]
  • [Cites] Mol Genet Metab. 2008 Mar;93(3):331-40 [18023222.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7 [18287059.001]
  • [Cites] J Pediatr. 2008 Apr;152(4):563-70, 570.e1 [18346516.001]
  • [Cites] Acta Paediatr. 2008 Apr;97(4):463-9 [18363956.001]
  • [Cites] Nephrol Dial Transplant. 2008 May;23(5):1628-35 [18057066.001]
  • [Cites] Nephrol Dial Transplant. 2008 May;23(5):1600-7 [18175781.001]
  • [Cites] Am J Kidney Dis. 2008 May;51(5):767-76 [18436087.001]
  • [Cites] Kidney Int. 2008 May;73(10):1193-9 [18033242.001]
  • [Cites] Genet Med. 2008 May;10(5):353-8 [18496035.001]
  • [Cites] J Neurol. 2008 May;255(5):738-44 [18297328.001]
  • [Cites] Acta Paediatr Suppl. 2006 Apr;95(451):57-62 [16720467.001]
  • [Cites] Acta Paediatr Suppl. 2006 Apr;95(451):63-8 [16720468.001]
  • [Cites] J Cardiovasc Magn Reson. 2006;8(3):479-82 [16755835.001]
  • [Cites] N Engl J Med. 2006 Jun 8;354(23):2473-83 [16760447.001]
  • [Cites] J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404 [16763908.001]
  • [Cites] Am J Hum Genet. 2006 Jul;79(1):31-40 [16773563.001]
  • [Cites] Genet Med. 2006 Jun;8(6):346-53 [16778596.001]
  • [Cites] Am J Hypertens. 2006 Aug;19(8):782-7 [16876675.001]
  • [Cites] Expert Opin Biol Ther. 2009 Feb;9(2):255-61 [19236256.001]
  • [Cites] Stroke. 2009 Mar;40(3):788-94 [19150871.001]
  • [Cites] Graefes Arch Clin Exp Ophthalmol. 2009 Apr;247(4):523-34 [18931853.001]
  • [Cites] J Am Soc Nephrol. 2009 Mar;20(3):629-37 [19158356.001]
  • [Cites] Mol Genet Metab. 2009 Apr;96(4):233-8 [19181556.001]
  • [Cites] Transpl Int. 2009 Apr;22(4):475-81 [19207191.001]
  • [Cites] Am J Physiol Heart Circ Physiol. 2009 Apr;296(4):H1133-40 [19202000.001]
  • [Cites] Pharmacol Ther. 2009 Apr;122(1):65-77 [19318041.001]
  • [Cites] Eur J Obstet Gynecol Reprod Biol. 2009 May;144(1):92-3 [19233535.001]
  • [Cites] Genet Med. 2009 Apr;11(4):256-64 [19265719.001]
  • [Cites] Clin Chim Acta. 2009 May;403(1-2):159-62 [19245803.001]
  • [Cites] Expert Opin Biol Ther. 2009 May;9(5):631-9 [19368525.001]
  • [Cites] J Am Soc Nephrol. 2009 May;20(5):1132-9 [19357250.001]
  • [Cites] Ultrasound Med Biol. 2009 May;35(5):730-5 [19110366.001]
  • [Cites] Am J Nephrol. 2009;29(5):353-61 [18974635.001]
  • [Cites] Circulation. 2009 May 19;119(19):2561-7 [19414635.001]
  • [Cites] Pediatr Ann. 2009 Apr;38(4):190, 192 [19455947.001]
  • [Cites] J Inherit Metab Dis. 2009 Jun;32(3):424-40 [19387866.001]
  • [Cites] Genet Med. 2009 Jun;11(6):441-9 [19346951.001]
  • [Cites] Heart. 2009 Jul;95(13):1103-7 [19372091.001]
  • [Cites] Nephrol Dial Transplant. 2009 Jul;24(7):2102-11 [19218538.001]
  • [Cites] J Med Genet. 2009 Aug;46(8):548-52 [19473999.001]
  • [Cites] Eur J Hum Genet. 2007 May;15(5):535-42 [17327876.001]
  • [Cites] J Am Soc Nephrol. 2007 May;18(5):1576-83 [17409308.001]
  • [Cites] J Am Soc Nephrol. 2007 May;18(5):1547-57 [17409312.001]
  • [Cites] Clin Chim Acta. 2005 Mar;353(1-2):201-3 [15698608.001]
  • [Cites] J Inherit Metab Dis. 2005;28(1):35-48 [15702404.001]
  • [Cites] Eur J Clin Invest. 2004 Mar;34(3):236-42 [15025684.001]
  • [Cites] Br J Dermatol. 2004 Mar;150(3):575-7 [15030345.001]
  • [Cites] Can J Neurol Sci. 2004 Feb;31(1):112-4 [15038481.001]
  • [Cites] Neurology. 2004 Apr 13;62(7):1066-72 [15079003.001]
  • [Cites] J Am Soc Nephrol. 2004 May;15(5):1323-9 [15100373.001]
  • [Cites] Ophthalmologica. 2004 May-Jun;218(3):207-9 [15103218.001]
  • [Cites] Mol Genet Metab. 2004 May;82(1):93-7 [15110329.001]
  • [Cites] J Pediatr. 2004 May;144(5 Suppl):S20-6 [15126980.001]
  • [Cites] J Chromatogr B Analyt Technol Biomed Life Sci. 2004 Jun 15;805(2):331-7 [15135109.001]
  • [Cites] J Inherit Metab Dis. 2004;27(2):229-40 [15159654.001]
  • [Cites] Am J Hum Genet. 2004 Jul;75(1):65-74 [15154115.001]
  • [Cites] J Neurol. 2004 May;251(5):564-70 [15164189.001]
  • [Cites] Expert Opin Biol Ther. 2004 Jul;4(7):1167-76 [15268683.001]
  • [Cites] Hum Mutat. 2005 Mar;25(3):299-305 [15712228.001]
  • [Cites] J Clin Pharmacol. 2007 Oct;47(10):1222-30 [17698592.001]
  • [Cites] J Inherit Metab Dis. 2007 Oct;30(5):790-9 [17619837.001]
  • [Cites] J Neurol. 2007 Oct;254(10):1433-42 [17934877.001]
  • [Cites] J Neurol. 2007 Oct;254(10):1447-9 [17940724.001]
  • [Cites] Clin Gastroenterol Hepatol. 2007 Dec;5(12):1447-53 [17919989.001]
  • [Cites] J Inherit Metab Dis. 2007 Nov;30(6):988 [17849232.001]
  • [Cites] J Inherit Metab Dis. 2007 Nov;30(6):943-51 [17994284.001]
  • [Cites] Genet Med. 2007 Dec;9(12):812-8 [18091430.001]
  • [Cites] J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403 [18154965.001]
  • [Cites] Clin J Am Soc Nephrol. 2008 Jan;3(1):139-45 [18003767.001]
  • [Cites] Pediatrics. 2005 Mar;115(3):e344-55 [15713906.001]
  • [Cites] J Med Genet. 2005 Mar;42(3):247-52 [15744039.001]
  • [Cites] Am J Med Genet A. 2005 Apr 1;134A(1):84-7 [15712198.001]
  • [Cites] Clin Experiment Ophthalmol. 2005 Apr;33(2):164-8 [15807825.001]
  • [Cites] Kidney Int. 2005 May;67(5):1955-60 [15840043.001]
  • [Cites] Acta Paediatr Suppl. 2005 Mar;94(447):15-8; discussion 9-10 [15895706.001]
  • [Cites] Acta Paediatr Suppl. 2005 Mar;94(447):51-4; discussion 37-8 [15895713.001]
  • [Cites] Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79 [15895718.001]
  • [Cites] J Inherit Metab Dis. 2005;28(4):563-73 [15902560.001]
  • [Cites] J Inherit Metab Dis. 2005;28(4):575-83 [15902561.001]
  • [Cites] Mod Pathol. 2005 May;18(5):733-8 [15605079.001]
  • [Cites] Eur Heart J. 2005 Jun;26(12):1221-7 [15728649.001]
  • [Cites] Clin Genet. 2005 Jul;68(1):93-5 [15952993.001]
  • [Cites] J Obstet Gynaecol Res. 2010 Apr;36(2):428-9 [20492401.001]
  • [Cites] J Sex Med. 2010 Apr;7(4 Pt 1):1588-91 [20102445.001]
  • [Cites] Mol Genet Metab. 2010 Jul;100(3):257-61 [20409739.001]
  • [Cites] Nephrol Dial Transplant. 2010 Jul;25(7):2168-77 [19833663.001]
  • [Cites] J Hypertens. 2010 Jul;28(7):1438-48 [20125036.001]
  • [Cites] J Biol Chem. 2010 Jul 9;285(28):21560-6 [20444686.001]
  • [Cites] Am J Med. 2010 Jul;123(7):658.e1-658.e10 [20609689.001]
  • [Cites] J Inherit Metab Dis. 2010 Aug;33(4):429-36 [20549363.001]
  • [Cites] Biochim Biophys Acta. 2010 Sep;1802(9):741-8 [20471476.001]
  • [Cites] QJM. 2010 Sep;103(9):641-59 [20660166.001]
  • [Cites] Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14 [20716442.001]
  • [Cites] Int J Cardiol. 2010 Oct 8;144(2):337-9 [19344961.001]
  • [Cites] Heart. 2010 Dec;96(23):1915-9 [20965976.001]
  • [Cites] Genet Med. 2010 Nov;12(11):703-12 [20885332.001]
  • [Cites] Biochim Biophys Acta. 2011 Jan;1812(1):70-6 [20851180.001]
  • [Cites] Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8 [20813854.001]
  • [Cites] Heart. 2011 Jan;97(2):131-6 [21062768.001]
  • [Cites] Rev Med Interne. 2010 Dec;31 Suppl 2:S209-13 [21211665.001]
  • [Cites] Cardiovasc Res. 2011 Feb 1;89(2):290-9 [20971723.001]
  • [Cites] Nephrol Dial Transplant. 2011 Jun;26(6):1797-802 [20504837.001]
  • [Cites] J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S369-74 [18937048.001]
  • [Cites] Autophagy. 2010 Jul;6(5):589-99 [20431343.001]
  • [Cites] J Med Genet. 2006 Apr;43(4):347-52 [16227523.001]
  • [Cites] Hum Genomics. 2006 Mar;2(5):297-309 [16595074.001]
  • [Cites] J Inherit Metab Dis. 2006 Feb;29(1):106-11 [16601876.001]
  • [Cites] Intern Med J. 2002 Dec;32(12):575-84 [12512750.001]
  • [Cites] Clin Genet. 2003 Jan;63(1):46-52 [12519371.001]
  • [Cites] J Am Soc Nephrol. 2003 Feb;14(2):298-302 [12538729.001]
  • [Cites] Acta Paediatr Suppl. 2002;91(439):57-61 [12572844.001]
  • [Cites] Acta Paediatr Suppl. 2002;91(439):62-6 [12572845.001]
  • [Cites] Ann Intern Med. 2003 Feb 18;138(4):338-46 [12585833.001]
  • [Cites] Am J Clin Dermatol. 2003;4(3):189-96 [12627994.001]
  • [Cites] Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3450-4 [12624185.001]
  • [Cites] Glycobiology. 2003 Apr;13(4):305-13 [12626384.001]
  • [Cites] Circulation. 2003 Apr 22;107(15):1978-84 [12668521.001]
  • [Cites] J Genet Couns. 2002 Apr;11(2):121-46 [12735292.001]
  • [Cites] AJNR Am J Neuroradiol. 2003 May;24(5):916-21 [12748094.001]
  • [Cites] AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1096-101 [12812932.001]
  • [Cites] Am J Hum Genet. 2003 Jul;73(1):162-73 [12796853.001]
  • [Cites] Ophthalmic Genet. 2003 Sep;24(3):129-39 [12868031.001]
  • [Cites] Nephrol Dial Transplant. 2003 Aug;18(8):1581-4 [12897098.001]
  • [Cites] Clin Chem. 2008 Oct;54(10):1725-8 [18719200.001]
  • [Cites] Clin Genet. 2008 Sep;74(3):260-6 [18445046.001]
  • [Cites] Neuropathology. 2008 Oct;28(5):532-40 [18410273.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1249-54 [18535022.001]
  • [Cites] Lancet. 2008 Oct 18;372(9647):1427-35 [18940466.001]
  • [Cites] Mol Genet Metab. 2008 Nov;95(3):163-8 [18707907.001]
  • [Cites] Pediatr Res. 2008 Nov;64(5):550-5 [18596579.001]
  • [Cites] J Am Soc Nephrol. 2008 Nov;19(11):2052-9 [18448583.001]
  • [Cites] Kidney Int. 2008 Nov;74(10):1366 [18974770.001]
  • [Cites] J Am Soc Echocardiogr. 2008 Nov;21(11):1265-8 [18835697.001]
  • [Cites] Int J Cardiol. 2008 Nov 28;130(3):367-73 [18572264.001]
  • [Cites] BMC Neurol. 2008;8:41 [18990229.001]
  • [Cites] Kidney Int Suppl. 2008 Dec;(111):S29-32 [19039306.001]
  • [Cites] Pain Med. 2008 Nov;9(8):1217-23 [18565003.001]
  • [Cites] Mol Genet Metab. 2009 Jan;96(1):4-12 [19022694.001]
  • [Cites] Neurology. 2009 Jan 6;72(1):63-8 [19122032.001]
  • [Cites] Transplantation. 2009 Jan 27;87(2):280-5 [19155985.001]
  • [Cites] Kidney Int. 2009 Feb;75(4):399-407 [19037253.001]
  • [Cites] Kidney Int. 2009 Feb;75(4):351-3 [19180148.001]
  • [Cites] Circulation. 2009 Feb 3;119(4):524-9 [19153271.001]
  • [Cites] Mol Genet Metab. 2009 Mar;96(3):83-4 [19083254.001]
  • [Cites] Transpl Int. 2009 Mar;22(3):287-92 [18954370.001]
  • [Cites] J Pharmacol Exp Ther. 2009 Mar;328(3):723-31 [19106170.001]
  • [Cites] J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S73-81 [20087663.001]
  • [Cites] J Inherit Metab Dis. 2006 Feb;29(1):112-8 [16601877.001]
  • [Cites] Kidney Int. 2006 Apr;69(7):1216-21 [16609685.001]
  • [Cites] Circulation. 2006 Apr 25;113(16):e720-1 [16636179.001]
  • [Cites] Am J Cardiol. 2006 May 15;97(10):1515-8 [16679096.001]
  • [Cites] Rev Neurol (Paris). 2006 May;162(5):569-80 [16710123.001]
  • [Cites] Acta Paediatr Suppl. 2006 Apr;95(451):30-8 [16720462.001]
  • [Cites] Virchows Arch. 2008 Jun;452(6):651-65 [18351385.001]
  • [Cites] J Cardiol. 2008 Feb;51(1):50-9 [18522775.001]
  • [Cites] Mol Genet Metab. 2008 Jul;94(3):319-25 [18424138.001]
  • [Cites] Mol Genet Metab. 2008 Jul;94(3):313-8 [18456533.001]
  • [Cites] Mol Genet Metab. 2008 Jul;94(3):382-5 [18472290.001]
  • [Cites] Br J Nurs. 2008 May 22-Jun 11;17(10):653-7 [18563007.001]
  • [Cites] J Inherit Metab Dis. 2008 Jun;31(3):432-41 [18509742.001]
  • [Cites] Intern Med J. 2008 Jun;38(6):407-14 [18613897.001]
  • [Cites] Virchows Arch. 2008 Sep;453(3):291-300 [18762974.001]
  • [Cites] Mol Genet Metab. 2008 Sep-Oct;95(1-2):114-5 [18701330.001]
  • [Cites] J Inherit Metab Dis. 2009 Aug;32(4):481-7 [19495571.001]
  • [Cites] Pain. 2009 Sep;145(1-2):10-1 [19665844.001]
  • [Cites] J Am Soc Nephrol. 2009 Sep;20(9):1975-85 [19628671.001]
  • [Cites] Eur Heart J. 2007 May;28(10):1228-35 [17483538.001]
  • [Cites] Clin Neurol Neurosurg. 2007 Jul;109(6):479-84 [17509753.001]
  • [Cites] Presse Med. 2007 Mar;36 Spec No 1:1S3-6 [17546760.001]
  • [Cites] Presse Med. 2007 Mar;36 Spec No 1:1S14-9 [17546762.001]
  • [Cites] Presse Med. 2007 Mar;36 Spec No 1:1S36-42 [17546766.001]
  • [Cites] Clin J Pain. 2007 Jul-Aug;23(6):535-42 [17575495.001]
  • [Cites] Clin Ther. 2007;29 Suppl A:S17-8 [17580237.001]
  • [Cites] Fertil Steril. 2007 Jul;88(1):212.e15-8 [17261284.001]
  • [Cites] PLoS One. 2007;2(7):e598 [17622343.001]
  • [Cites] Br J Dermatol. 2007 Aug;157(2):331-7 [17573884.001]
  • [Cites] Prenat Diagn. 2007 Aug;27(8):693-4 [17533632.001]
  • [Cites] Biochem J. 2007 Sep 1;406(2):285-95 [17555407.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):1007 [17702786.001]
  • [Cites] J Am Soc Nephrol. 2007 Sep;18(9):2426-8 [17699807.001]
  • [Cites] J Am Soc Nephrol. 2007 Sep;18(9):2609-17 [17656478.001]
  • [Cites] FEBS J. 2007 Oct;274(19):4962-71 [17894781.001]
  • [Cites] Eur J Pediatr. 2009 Nov;168(11):1355-63 [19242721.001]
  • [Cites] Hum Mutat. 2009 Oct;30(10):1397-405 [19621417.001]
  • [Cites] Auris Nasus Larynx. 2009 Dec;36(6):627-32 [19261412.001]
  • [Cites] Am J Hum Genet. 2009 Nov;85(5):569-80 [19853240.001]
  • [Cites] Adv Clin Chem. 2009;49:57-71 [19947355.001]
  • [Cites] Lancet. 2009 Dec 12;374(9706):1986-96 [19959221.001]
  • [Cites] Circ Cardiovasc Genet. 2009 Oct;2(5):450-6 [20031620.001]
  • [Cites] Stroke. 2010 Jan;41(1):78-81 [20007919.001]
  • [Cites] Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S111-7 [20040321.001]
  • [Cites] Eur Heart J. 2010 Jan;31(1):67-76 [19773225.001]
  • [Cites] J Inherit Metab Dis. 2009 Dec;32(6):739-44 [19876760.001]
  • [Cites] J Inherit Metab Dis. 2009 Dec;32(6):745-53 [19924564.001]
  • [Cites] J Biol Chem. 2010 Feb 5;285(6):3625-32 [19940122.001]
  • [Cites] Clin J Am Soc Nephrol. 2010 Feb;5(2):359 [20019119.001]
  • [Cites] Clin J Am Soc Nephrol. 2010 Feb;5(2):365-70 [20056758.001]
  • [Cites] Mol Genet Metab. 2010 Mar;99(3):283-90 [19951842.001]
  • [Cites] Nephrol Dial Transplant. 2010 Mar;25(3):769-75 [19846394.001]
  • [Cites] Mol Genet Metab. 2010 Apr;99(4):367-73 [20022777.001]
  • [Cites] J Pediatr. 2010 May;156(5):832-7, 837.e1 [20097359.001]
  • [Cites] Eur J Med Genet. 2010 Mar-Apr;53(2):111-2 [20045092.001]
  • [Cites] Nephrol Dial Transplant. 2010 May;25(5):1507-13 [20038520.001]
  • [Cites] Stroke. 2010 May;41(5):863-8 [20360539.001]
  • [Cites] Lancet. 2010 May 1;375(9725):1523; author reply 1523-4 [20435225.001]
  • (PMID = 21092187.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
  • [Other-IDs] NLM/ PMC3009617
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68. Ranjan N, Mahajan VK: Oral angiokeratomas: proposed clinical classification. Int J Dermatol; 2009 Jul;48(7):778-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Oral angiokeratomas: proposed clinical classification.
  • [MeSH-major] Angiokeratoma / classification. Mouth Neoplasms / classification. Tongue Neoplasms / classification

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  • [CommentOn] Int J Dermatol. 2005 Oct;44(10):886-8 [16207201.001]
  • (PMID = 19570090.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 20
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69. Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S: Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. Int J Dermatol; 2010 Feb;49(2):184-8
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  • [Title] Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature.
  • Acral pseudolymphomatous angiokeratoma of children (APACHE) is clinically characterized by angiomatous papules that preferentially affect acral areas of children.
  • It is currently believed to be a variant of pseudolymphoma rather than angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Pseudolymphoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 20465644.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 17
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70. Jansen T, Brokalaki E, Hillen U, Hentschke M, Grabbe S: [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]. Dtsch Med Wochenschr; 2006 Jul 14;131(28-29):1590-3
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  • [Title] [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy].
  • INVESTIGATIONS: The clinical features included angiokeratomas on the buttocks, hips, and periumbilical region, whorl-like corneal opacity (cornea verticillata), and mitral valve prolapse.
  • CONCLUSION: Fabry disease results from deficient activity of the enzyme alpha-galactosidase A.
  • [MeSH-major] Fabry Disease / drug therapy. alpha-Galactosidase / genetics
  • [MeSH-minor] Abdomen. Adult. Angiokeratoma / etiology. Buttocks. Corneal Opacity / etiology. Female. Heterozygote. Hip. Humans. Isoenzymes / administration & dosage. Isoenzymes / therapeutic use. Mitral Valve Prolapse / etiology. Point Mutation. Skin Neoplasms / etiology

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  • (PMID = 16823707.001).
  • [ISSN] 0012-0472
  • [Journal-full-title] Deutsche medizinische Wochenschrift (1946)
  • [ISO-abbreviation] Dtsch. Med. Wochenschr.
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
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71. Zhang SH, Liu ZH, Zeng CH, Li SJ, Chen HP, Su J, Li LS: Fabry disease: renal biopsy-proven cases from China. J Nephrol; 2007 Nov-Dec;20(6):716-26
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: renal biopsy-proven cases from China.
  • BACKGROUND: Fabry disease is a rare metabolic disorder resulting from deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA).
  • Extrarenal manifestations, including acroparesthesia, hypohidrosis, abnormal electrocardiography and angiokeratoma were noted.
  • We identified a novel missense mutation (F273L) causing nonclassical Fabry disease.
  • CONCLUSIONS: Fabry disease is relatively rare in China.
  • Renal biopsy and specific staining is efficacious in the correct diagnosis of the disease.
  • Discrepancies in the clinical manifestations of Fabry disease (i.e., eye disorders and hypertension) exist between cases found in China and those detailed in Western reports.
  • [MeSH-major] Fabry Disease / pathology. Kidney Glomerulus / pathology

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  • (PMID = 18046674.001).
  • [ISSN] 1121-8428
  • [Journal-full-title] Journal of nephrology
  • [ISO-abbreviation] J. Nephrol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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72. Möhrenschlager M, Henkel V, Ring J: Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge. Br J Dermatol; 2005 Jan;152(1):177-8; author reply 178-9
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  • [Title] Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge.
  • [MeSH-major] Angiokeratoma / diagnosis. Fabry Disease / drug therapy. Skin Neoplasms / diagnosis. alpha-Galactosidase / therapeutic use

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  • [CommentOn] Br J Dermatol. 2004 Mar;150(3):575-7 [15030345.001]
  • (PMID = 15656825.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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73. Malalasekera AP, Goddard JC, Terry TR: Angiokeratoma of Fordyce simulating recurrent penile cancer. Urology; 2007 Mar;69(3):576.e13-4
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  • [Title] Angiokeratoma of Fordyce simulating recurrent penile cancer.
  • The histologic examination, however, revealed a benign angiokeratoma with no evidence of recurrent cancer.
  • Angiokeratoma on the scrotum after treatment for carcinoma of the penis has only been documented once.
  • [MeSH-major] Angiokeratoma / diagnosis. Carcinoma, Squamous Cell / diagnosis. Neoplasms, Multiple Primary / diagnosis. Penile Neoplasms / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 17382178.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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74. Wattanasirichaigoon D, Svasti J, Cairns JR, Tangnararatchakit K, Visudtibhan A, Keeratichamroen S, Ngiwsara L, Khowsathit P, Onkoksoong T, Lekskul A, Mongkolsiri D, Jariengprasert C, Thawil C, Ruencharoen S: Clinical and molecular characterization of an extended family with Fabry disease. J Med Assoc Thai; 2006 Sep;89(9):1528-35
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical and molecular characterization of an extended family with Fabry disease.
  • MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study.
  • None had angiokeratoma or renal symptoms.
  • CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.
  • [MeSH-major] Fabry Disease / genetics. Family. alpha-Galactosidase / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Amino Acid Substitution. Angiokeratoma / etiology. Child. Child, Preschool. DNA Mutational Analysis. Female. Humans. Male. Mutation, Missense. Pedigree. Renal Insufficiency / etiology

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  • (PMID = 17100396.001).
  • [ISSN] 0125-2208
  • [Journal-full-title] Journal of the Medical Association of Thailand = Chotmaihet thangphaet
  • [ISO-abbreviation] J Med Assoc Thai
  • [Language] eng
  • [Databank-accession-numbers] OMIM/ 301500
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Thailand
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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75. Kwon NH, Kim SY, Kim GM: A case of post-injury angiokeratoma circumscriptum of the chest. Ann Dermatol; 2010 Feb;22(1):66-8
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  • [Title] A case of post-injury angiokeratoma circumscriptum of the chest.
  • Angiokeratomas represent vascular lesions and are histologically characterized by superficial vascular ectasia and overlying acanthosis and/or hyperkeratosis.
  • Angiokeratomas can be classified into five types, with angiokeratoma circumscriptum representing the least common of the five types.
  • Angiokeratoma circumscriptum presents at birth and frequently occurs unilaterally on the leg.
  • Herein, we report a rare case of long term angiokeratoma circumscriptum (twelve years) on the right chest, discovered following the excision of a lipoma from the same area.

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  • [Cites] Dermatol Surg. 2005 Feb;31(2):232-6 [15762221.001]
  • [Cites] Dermatology. 1996;193(4):275-82 [8993949.001]
  • [Cites] J Korean Med Sci. 1988 Dec;3(4):169-70 [3267366.001]
  • [Cites] Dermatol Surg. 2004 Oct;30(10):1364-6 [15458538.001]
  • [Cites] Plast Reconstr Surg. 1981 Feb;67(2):221-3 [7465672.001]
  • [Cites] Arch Dermatol. 1967 Feb;95(2):166-75 [6018992.001]
  • [Cites] Clin Exp Dermatol. 1987 Jan;12(1):23-5 [3652499.001]
  • (PMID = 20548886.001).
  • [ISSN] 2005-3894
  • [Journal-full-title] Annals of dermatology
  • [ISO-abbreviation] Ann Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2883402
  • [Keywords] NOTNLM ; Angiokeratoma circumscriptum / Chest / Injury
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76. Mendióroz M, Fernández-Cadenas I, Montaner J: [Neurological manifestations of Fabry disease]. Rev Neurol; 2006 Dec 16-31;43(12):739-45
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  • [Title] [Neurological manifestations of Fabry disease].
  • AIM: To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.
  • DEVELOPMENT: Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells.
  • Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults.
  • Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity.
  • Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease.
  • Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.
  • CONCLUSIONS: Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction.
  • [MeSH-major] Fabry Disease / complications. Nervous System Diseases / etiology

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  • [CommentIn] Neurologia. 2014 Sep;29(7):442-3 [23582745.001]
  • (PMID = 17160925.001).
  • [ISSN] 0210-0010
  • [Journal-full-title] Revista de neurologia
  • [ISO-abbreviation] Rev Neurol
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Recombinant Proteins; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 53
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77. Noben-Trauth K, Neely H, Brady RO: Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. Hear Res; 2007 Dec;234(1-2):10-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.
  • Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (Gla).
  • Clinically the disorder presents with angiokeratomas, clouding of the cornea, and renal, cardiac, and cerebrovascular complications.
  • [MeSH-major] Cochlea / physiopathology. Fabry Disease / physiopathology. Hearing. alpha-Galactosidase / metabolism
  • [MeSH-minor] Acoustic Stimulation. Animals. Disease Models, Animal. Evoked Potentials, Auditory, Brain Stem. Female. Hearing Loss / enzymology. Hearing Loss / etiology. Hearing Loss / physiopathology. Male. Mice. Mice, Inbred C3H. Mice, Inbred C57BL. Mice, Knockout. RNA, Messenger / metabolism. Time Factors

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  • (PMID = 17933476.001).
  • [ISSN] 0378-5955
  • [Journal-full-title] Hearing research
  • [ISO-abbreviation] Hear. Res.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / RNA, Messenger; EC 3.2.1.22 / alpha-Galactosidase
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78. Kouris NT, Kontogianni DD, Pavlou MT, Babalis DK: Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. Int J Cardiol; 2005 Mar 18;99(2):327-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
  • A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness.
  • Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory examination.
  • It can therefore be concluded that even young patients with Fabry's disease and normal echocardiograms might develop cardiac symptoms due to AV conduction abnormalities.
  • [MeSH-major] Atrioventricular Node / physiopathology. Bradycardia / etiology. Fabry Disease / complications

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  • (PMID = 15749195.001).
  • [ISSN] 0167-5273
  • [Journal-full-title] International journal of cardiology
  • [ISO-abbreviation] Int. J. Cardiol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Ireland
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79. Ro LS, Chen CM, Chang HS, Lyu RK, Wu YR, Hsu WC, Lee-Chen GJ: Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion. Eur J Neurol; 2007 May;14(5):493-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
  • Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers.
  • We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family.
  • Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients.
  • We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.
  • [MeSH-major] Fabry Disease / enzymology. Fabry Disease / genetics. Gene Deletion. Mutation / genetics. alpha-Galactosidase / genetics

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  • (PMID = 17437606.001).
  • [ISSN] 1468-1331
  • [Journal-full-title] European journal of neurology
  • [ISO-abbreviation] Eur. J. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Genetic Markers; EC 3.2.1.22 / alpha-Galactosidase
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80. Tøndel C, Bostad L, Hirth A, Svarstad E: Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis; 2008 May;51(5):767-76
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria.
  • BACKGROUND: Information concerning renal pathological characteristics in Fabry disease in childhood is limited.
  • Our objective is to define renal morphological abnormalities in children and adolescents with Fabry disease and minimal proteinuria.
  • RESULTS: All patients had acroparesthesia and typical eye changes, 7 showed hypohidrosis, 7 had gastrointestinal problems, and 2 had typical angiokeratomas.
  • The combination of acroparesthesia and mild albuminuria, glomerular endothelial cell deposits, and arteriopathy may constitute a clinical and morphological combination heralding a potentially progressive renal disease.
  • [MeSH-major] Albuminuria / etiology. Fabry Disease / pathology. Kidney / pathology
  • [MeSH-minor] Adolescent. Biopsy. Child. Disease Progression. Female. Glomerular Filtration Rate. Humans. Male

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  • [ErratumIn] Am J Kidney Dis. 2009 Mar;53(3):567
  • (PMID = 18436087.001).
  • [ISSN] 1523-6838
  • [Journal-full-title] American journal of kidney diseases : the official journal of the National Kidney Foundation
  • [ISO-abbreviation] Am. J. Kidney Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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81. Kotnik J, Kotnik F, Desnick RJ: Fabry disease. A case report. Acta Dermatovenerol Alp Pannonica Adriat; 2005 Mar;14(1):15-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease. A case report.
  • Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A).
  • The first case of Fabry disease in Slovenia was diagnosed in 1991.
  • The diagnosis of angiokeratoma corporis diffusa (Fabry disease) was made clinically and confirmed by demonstration of the deficient leukocyte alpha-Gal A activity.
  • The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction.
  • This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy.
  • Early diagnosis is important for the most effective treatment of this disease.
  • [MeSH-major] Fabry Disease / complications. Fabry Disease / diagnosis. Kidney Failure, Chronic / etiology. Myocardial Infarction / etiology. Proteinuria / etiology
  • [MeSH-minor] Disease Progression. Fatal Outcome. Humans. Male. Middle Aged. Time Factors. alpha-Galactosidase / genetics

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  • (PMID = 15818441.001).
  • [ISSN] 1318-4458
  • [Journal-full-title] Acta dermatovenerologica Alpina, Pannonica, et Adriatica
  • [ISO-abbreviation] Acta Dermatovenerol Alp Pannonica Adriat
  • [Language] eng
  • [Grant] United States / NCRR NIH HHS / RR / 5 M01 RR00071; United States / NIDDK NIH HHS / DK / R29 DK 34045
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] Slovenia
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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82. Weidemann F, Strotmann JM, Breunig F, Niemann M, Maag R, Baron R, Eggert AO, Wanner C: Misleading terms in Anderson-Fabry disease. Eur J Clin Invest; 2008 Mar;38(3):191-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Misleading terms in Anderson-Fabry disease.
  • BACKGROUND: Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs.
  • MATERIALS AND METHODS: Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized examination programme was performed in all patients.
  • RESULTS: Among the 47 male and 53 female patients (mean age 41 +/- 16 years) with genetically proven disease, the Fabry-type vascular skin lesions were without hyperkeratotic aspect and keratomas were virtually absent.
  • CONCLUSIONS: Our findings suggest that some terms used to describe signs and symptoms of Fabry disease are historically derived and do not comply with state-of-the-art examination.
  • We propose to replace the term 'angiokeratoma' with 'angioma', the term 'acroparaesthesia' with 'neuropathic pain' and the term 'restrictive cardiomyopathy' with 'cardiac hypertrophic storage disease'.
  • As most of the physicians are not familiar with Fabry disease, terms used in the past might prevent the correct diagnosis of a potentially treatable disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Cardiovascular Diseases / diagnosis. Fabry Disease / diagnosis. Paresthesia / diagnosis


83. Sion-Vardy N, Manor E, Puterman M, Bodner L: Solitary angiokeratoma of the tongue. Med Oral Patol Oral Cir Bucal; 2008 Jan;13(1):E12-4
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  • [Title] Solitary angiokeratoma of the tongue.
  • Angiokeratoma is a rare cutaneous lesion.
  • Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localized form of angiokeratoma.
  • On dermatologic examination, no angiokeratomas were found, anywhere on the skin.
  • The histologic diagnosis was angiokeratoma.
  • A case of a solitary angiokeratoma of the tongue is reported.
  • We report here the third intra-oral case and the second case in the tongue with solitary angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 18167473.001).
  • [ISSN] 1698-6946
  • [Journal-full-title] Medicina oral, patología oral y cirugía bucal
  • [ISO-abbreviation] Med Oral Patol Oral Cir Bucal
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Spain
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84. Kanitakis J, Allombert C, Doebelin B, Deroo-Berger MC, Grande S, Blanc S, Claudy A: Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. J Cutan Pathol; 2005 Aug;32(7):506-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
  • Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency.
  • It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum.
  • We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy.
  • The salient clinicopathological features of this disease are briefly reviewed.
  • [MeSH-major] Fabry Disease / pathology. Fucosidosis / pathology. Skin / pathology

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  • (PMID = 16008696.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Biomarkers; EC 3.2.1.51 / alpha-L-Fucosidase
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85. Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA: Angiokeratoma: a cutaneous marker of Fabry's disease. Clin Exp Dermatol; 2010 Jul;35(5):505-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma: a cutaneous marker of Fabry's disease.
  • The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis.
  • A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29).
  • [MeSH-major] Angiokeratoma / pathology. Fabry Disease / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Biopsy. Child. Female. Genetic Predisposition to Disease. Humans. Male. Middle Aged. Pedigree. Young Adult

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  • (PMID = 19843083.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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86. Kes P, Basić-Jukić N, Brunetta B, Jurić I: [Anderson-Fabry disease]. Acta Med Croatica; 2006;60(1):55-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Anderson-Fabry disease].
  • Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A.
  • The overall prevalence of Anderson-Fabry disease is 1:117.00 or 1: 40.000 in (male) population.
  • Typically, the clinical onset of Anderson-Fabry disease occurs during childhood or adolescence, with early symptoms of neuropathic pain (recurrent episodes of severe pain in the extremities), angiokeratomas (characteristic cutaneous lesions), oedematous upper eyelids, peripheral vasospasm and ophthalmological abnormalities.
  • The disease progresses through adulthood and by the age of 30-40 years several major organ systems may be affected; cardiac disease, renal insufficiency, cerebrovascular attacks and neurologic findings are common.
  • [MeSH-major] Fabry Disease

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  • (PMID = 16802573.001).
  • [ISSN] 1330-0164
  • [Journal-full-title] Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti
  • [ISO-abbreviation] Acta Med Croatica
  • [Language] hrv
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Croatia
  • [Number-of-references] 22
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87. Pierre-Louis B, Kumar A, Frishman WH: Fabry disease: cardiac manifestations and therapeutic options. Cardiol Rev; 2009 Jan-Feb;17(1):31-5
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  • [Title] Fabry disease: cardiac manifestations and therapeutic options.
  • Fabry disease is a rare inherited lysosomal storage disorder caused by the partial or complete deficiency of the lysosomal enzyme alpha galactosidase A (alpha-Gal A), resulting in excess cellular glycosphingolipid deposition.
  • Disease transmission is X-linked, therefore it predominantly affects males and females as asymptomatic carriers.
  • However, females may also develop symptomatic disease of varying severity.
  • Glycosphingolipid deposition in various tissues leads to episodic pain crises and acroparesthesias, gastrointestinal disturbances, angiokeratomas, corneal, and lenticular opacities, and eventually in the third to fifth decades of life, the kidney, heart and central nervous system are involved.
  • Cardiac involvement is usually part of the multisystem disorder and presents in the fourth decade with other organ manifestations; however, a variant of Fabry disease with predominant cardiac manifestations has also been recognized.
  • Advanced cardiac disease may require a permanent pacemaker and cardiac transplant.
  • Substrate inhibition with enzyme replacement therapy and gene therapy instituted early in the disease course might slow progression of the cardiac manifestations.
  • [MeSH-major] Fabry Disease / complications. Heart Diseases / etiology


88. Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ: Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol; 2006 Mar;63(3):453-7
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  • [Title] Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
  • BACKGROUND: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy.
  • Later-onset variants with residual alpha-galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life.
  • RESULTS: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
  • CONCLUSION: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.
  • [MeSH-major] Fabry Disease / complications. Neuromuscular Diseases / etiology


89. Bathelier E, Gunera-Saad N, Bérard F, Nicolas JF: Angiokeratoma induced by injection of etanercept for psoriasis. J Am Acad Dermatol; 2008 Nov;59(5 Suppl):S124-5
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  • [Title] Angiokeratoma induced by injection of etanercept for psoriasis.
  • [MeSH-major] Angiokeratoma / chemically induced. Immunoglobulin G / adverse effects. Psoriasis / drug therapy

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  • (PMID = 19119125.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Immunoglobulin G; 0 / Receptors, Tumor Necrosis Factor; OP401G7OJC / Etanercept
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90. Kuzman T, Juri J, Mrsić M, Jeren-Strujić B, Mandić Z, Sikić J: [Ocular findings in Fabry's disease]. Acta Med Croatica; 2006;60(2):163-6
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  • [Title] [Ocular findings in Fabry's disease].
  • INTRODUCTION: Fabry's disease is a recessive X-linked disorder that results from a deficiency of the lysosomal hydrolase a-galactosidase A (alpha-Gal A).
  • Subsequently, angiokeratoma and ocular signs develop until, in most cases after the third decade of life, severe renal dysfunction or cardiomyopathy becomes obvious.
  • Recently, enzyme replacement therapy has been shown to be an effective treatment modality that can eliminate glycolipid stores and reverse the disease pathology.
  • During further evaluation nephrologist suspected Fabry's disease, because patient had skin changes early referred as petechiae, and acroparesthesias.
  • Physical status: angiokeratoma on gluteat regions and upper arms.
  • Heart ultrasound: low mitral regurgitation angio stage 1, left ventricle hypertrophy.
  • CONCLUSION: Fabry's disease occurs in all ethnic groups.
  • It is estimated that one in 200 people is a carrier, and one in 40,000-100,000 has the disease.
  • Today in Croatia, Fabry's disease has been diagnosed in only one patient, and according to the usual prevalence there are still 45-100 unrecognized patients.
  • The ophthalmologists are in excellent position to diagnose Fabry's disease in early stages.
  • Therefore it is very important that the ophthalmologists in Croatia become aware of the importance of ocular findings in Fabry's disease, so they can participate in the identification of unrecognized patients.
  • [MeSH-major] Eye Diseases / complications. Fabry Disease / complications

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  • (PMID = 16848212.001).
  • [ISSN] 1330-0164
  • [Journal-full-title] Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti
  • [ISO-abbreviation] Acta Med Croatica
  • [Language] hrv
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Croatia
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91. Garrido-Ríos AA, Sánchez-Velicia L, Marino-Harrison JM, Torrero-Antón MV, Miranda-Romero A: [A histopathologic and imaging study of verrucous hemangioma]. Actas Dermosifiliogr; 2008 Nov;99(9):723-6
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  • The terms verrucous hemangioma and angiokeratoma circumscriptum have been used interchangeably in the literature to define clinically similar lesions.
  • From a histologic perspective, however, angiokeratoma circumscriptum is limited to the papillary dermis whereas verrucous hemangioma extends as far as the hypodermis.
  • We describe the case of a 38-year-old woman who consulted for a lesion on the right thigh that was initially diagnosed as angiokeratoma; magnetic resonance imaging, however, led to a final diagnosis of verrucous hemangioma.

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  • [CommentIn] Actas Dermosifiliogr. 2009 Jun;100(5):437; author reply 438-9 [19558927.001]
  • (PMID = 19087812.001).
  • [ISSN] 0001-7310
  • [Journal-full-title] Actas dermo-sifiliográficas
  • [ISO-abbreviation] Actas Dermosifiliogr
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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92. Sierra-Luzuriaga G, Sierra-Montenegro E, Carrillo-Vedova C, Leone-Stay G: [Intergluteal angiokeratoma circumscriptum. Report of one case]. Cir Cir; 2006 Sep-Oct;74(5):373-5
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  • [Title] [Intergluteal angiokeratoma circumscriptum. Report of one case].
  • [Transliterated title] Angioqueratoma circunscrito interglúteo. Reporte de un caso.
  • BACKGROUND: The term angiokeratoma is applied to several diseases with cutaneous vascular lesions.
  • DISCUSSION: Five types of angiokeratomas have been described (angiokeratoma corporis diffusum, angiokeratoma of Mibelli, angiokeratoma of Fordyce, solitary angiokeratoma and angiokeratoma corporal circumscriptum).
  • This patient was identified with an angiokeratoma circumscriptum by pathological and physical characteristics of the tumor.
  • Differential diagnosis is with verrucous hemangioma and the Fabry disease type II (angiokeratoma corporis diffusum).
  • [MeSH-major] Angiokeratoma / surgery. Skin Neoplasms / surgery

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  • (PMID = 17224109.001).
  • [ISSN] 0009-7411
  • [Journal-full-title] Cirugía y cirujanos
  • [ISO-abbreviation] Cir Cir
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Mexico
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93. Tsuboi K: Enzyme replacement therapy in patients with Fabry's disease. J Int Med Res; 2007 Jul-Aug;35(4):574-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Enzyme replacement therapy in patients with Fabry's disease.
  • Fabry's disease, a disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells.
  • Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys.
  • Eleven ambulatory patients with Fabry's disease were given replacement alpha-GAL A therapy.
  • Three patients died due to factors associated with Fabry's disease.
  • Although careful observation is necessary, these results suggest that replacement alpha-GAL A therapy may be a safe and effective treatment of Fabry's disease.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / therapeutic use

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  • (PMID = 17697536.001).
  • [ISSN] 0300-0605
  • [Journal-full-title] The Journal of international medical research
  • [ISO-abbreviation] J. Int. Med. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase
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94. Demarin V, Kes VB, Bitunjac M, Ivanković M: Neurological manifestation of Fabry disease--a case report. Coll Antropol; 2009 Dec;33 Suppl 2:177-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurological manifestation of Fabry disease--a case report.
  • Fabry disease is an X-linked recessive glycolipid storage disease.
  • Angiokeratomas, neuropathic pain and ischemic stroke in young age suggested a Fabry disease.
  • All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease.
  • [MeSH-major] Fabry Disease / pathology. Pons / pathology. Stroke / etiology
  • [MeSH-minor] Adult. Croatia. Diagnostic Errors. Diplopia / etiology. Humans. Male. Neuralgia / etiology. Pedigree. Polymyositis / diagnosis. Raynaud Disease / diagnosis. Vasculitis / diagnosis. Vertigo / etiology


95. Varshney S: Angiokeratoma circumscriptum of the tongue. Int J Dermatol; 2005 Oct;44(10):886-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum of the tongue.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis

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  • [CommentIn] Int J Dermatol. 2009 Jul;48(7):778-81 [19570090.001]
  • (PMID = 16207201.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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96. Ghorpade A: Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko. Clin Exp Dermatol; 2010 Apr;35(3):e79-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko.
  • [MeSH-major] Angiokeratoma / pathology. Leg. Nevus, Blue / pathology. Skin Neoplasms / pathology

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  • (PMID = 20500192.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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97. Berk DR, Lind AC, Bayliss SJ: Acral angiokeratomas in a patient with Turner syndrome. Pediatr Dermatol; 2010 Nov-Dec;27(6):662-4
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  • [Title] Acral angiokeratomas in a patient with Turner syndrome.
  • Angiokeratomas have rarely been reported in patients with Turner syndrome.
  • Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / pathology. Skin Neoplasms / complications. Skin Neoplasms / pathology. Turner Syndrome / complications

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 21510021.001).
  • [ISSN] 1525-1470
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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98. Tudor A, Muşat A, Doscan A, Bari M, Zapucioiu C, Urdea E, Cochior D, Peţa D: Clinical spectrum of Anderson Fabry disease in a Romanian family. Rom J Intern Med; 2006;44(2):201-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical spectrum of Anderson Fabry disease in a Romanian family.
  • Anderson Fabry disease (alpha galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder; alpha galactosidase A deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promoting development of disease with renal, cardiovascular, and cerebrovascular involvement.
  • Clinical aspects which usually begin in childhood or adolescence include intermittent pain in the extremities (acroparesthesias), episodic "Fabry crisis" of acute pain lasting hours to days, characteristic skin lesions (angiokeratomas), hypohidrosis, heat and cold intolerance.
  • Classic phenotype conception of the disease has changed within the past decade, recognizing that disease is not limited to the classical full-blown manifestation in affected males, but may also occur in carrier females.
  • The expanding clinical spectrum of Anderson Fabry disease (AFD) is a real challenge to diagnosis, especially in some patients whose exclusive single organ manifestation belongs to the heart or kidney.
  • His 26 years-old sister has angiokeratomas as the only sign of disease (case B).
  • Case C: the uncle of these two cases (A, B) has a long history of disease including chronic renal failure, bilateral deafness, stroke, aseptic osteonecrosis.
  • The purpose of the presentation is to sharpen physicians' perception of this disease.
  • Early and accurate diagnosis is mandatory considering that this disorder is now, after introduction of the novel enzyme replacement therapy, a treatable disease.
  • [MeSH-major] Fabry Disease

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  • (PMID = 17236300.001).
  • [ISSN] 1220-4749
  • [Journal-full-title] Romanian journal of internal medicine = Revue roumaine de médecine interne
  • [ISO-abbreviation] Rom J Intern Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Romania
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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99. Rozenfeld PA: Fabry disease: treatment and diagnosis. IUBMB Life; 2009 Nov;61(11):1043-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: treatment and diagnosis.
  • Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues.
  • Classical Fabry disease affects various organs.
  • Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever.
  • The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear.
  • Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease.
  • Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms.
  • An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
  • [MeSH-major] Enzyme Replacement Therapy. Fabry Disease / diagnosis. Fabry Disease / therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19859978.001).
  • [ISSN] 1521-6551
  • [Journal-full-title] IUBMB life
  • [ISO-abbreviation] IUBMB Life
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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100. Al Dhaybi R, Powell J, McCuaig C, Kokta V: Differentiation of vascular tumors from vascular malformations by expression of Wilms tumor 1 gene: evaluation of 126 cases. J Am Acad Dermatol; 2010 Dec;63(6):1052-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: Based on the International Society for the Study of Vascular Anomalies classification of vascular anomalies, we studied the expression of WT1 in vascular tumors composed of infantile hemangioma, congenital hemangiomas (non-involuting, rapidly involuting, and not otherwise specified), pyogenic granuloma, tufted angioma, cherry angioma, Kaposi sarcoma, and angiosarcoma.
  • We also studied WT1 expression in vascular malformations composed of angiokeratoma/verrucous hemangioma, combined vascular malformations, venous malformations, glomuvenous malformations, lymphatic malformations/lymphangioma, telangiectasia, and targetoid hemosiderotic hemangioma.






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