Literature DB >> 5411915

Fabry's disease: alpha-galactosidase deficiency.

J A Kint.   

Abstract

The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.

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Year:  1970        PMID： 5411915     DOI： 10.1126/science.167.3922.1268

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  89 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

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2.  Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Authors:  R J Desnick; K J Dean; G Grabowski; D F Bishop; C C Sweeley
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3.  X-linked inheritance of a structural gene for alpha-galactosidase in Mus musculus.

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4.  Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

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5.  The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

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6.  Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease).

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8.  Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect.

Authors:  James L Park; Steven E Whitesall; Louis G D'Alecy; Liming Shu; James A Shayman
Journal:  Clin Exp Pharmacol Physiol       Date:  2008-06-18       Impact factor: 2.557

Review 9.  Targeting Glycosphingolipid Metabolism to Treat Kidney Disease.

Authors:  James A Shayman
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10.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132
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