Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA
mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal …

Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of
lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical …

Background Fabry disease results from deficient α-galactosidase A activity and
globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic …

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …

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 …

Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in
the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific …