Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient
activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various …

Fabry disease results from deficient α-galactosidase A (α-Gal A) activity and the pathologic
accumulation of the globotriaosylceramide (GL-3) and related glycosphingolipids, primarily …

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation …

Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in
the activity of the lysosomal hydrolase α-galactosidase A (α-gal). This deficiency results in …

Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of
glucosylceramide synthase. Background Fabry disease is an inherited X-linked disorder …

Background Fabry's disease, lysosomal α-galactosidase A deficiency, results from the
progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected …

Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It
leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a …

Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the
lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) …

Fabry disease (FD) is a rare lysosomal storage disorder, characterized by a reduction in α-
galactosidase A enzyme activity and the progressive accumulation of globotriaosylceramide …

Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-
galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The …