[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Article

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology - 1 Feb 1997

Okumiya T, Takata T, Sasaki M, Sakuraba H

Abstract excerpt

Fabry disease is characterized by a deficiency of lysosomal alpha-galactosidase (alpha-Gal) and the accumulation of glycosphingolipid (e.g. predominantly globotriaosylceramide) in various tissues, mainly in lysosomes of the vascular endothelium. This disorder is currently classified into two clin...

Topics

Fabry Disease
Gene Expression Regulation, Enzymologic
Genotype
Humans
Mutation
Phenotype
alpha-Galactosidase

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