Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme α-galactosidase A, resulting in intracellular deposition of globotriaosylceramide (Gb3). Accumulation of Gb3 is probably related ...

Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different ...

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase ...

Fabry disease is a lysosomal storage disease due to deficiency of the enzyme acid α-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic ...

Fabry disease is a lysosomal storage disease due to deficiency of the enzyme acid ?-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic ...

Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates ...

Background: Fabry disease results from deficiency of alpha-galactosidase A (AGA), causing lysosomal storage of globotriaosylceramide in heart and other tissues. Since 2003, enzymatic replacement therapy with recombinant ...