The term “pharmacological chaperone” was introduced 20 years ago. Since then the
approach with this type of drug has been proposed for several diseases, lysosomal storage …

Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused
by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1 …

Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very
large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations …

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by
deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a …

Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that
encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide …

Enzyme replacement therapy is the only therapeutic option for Fabry patients with
completely absent AGAL activity. However, the treatment has side effects, is costly, and …

Background: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to
glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine …

Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient
activity of α-galactosidase A which leads to progressive intracellular accumulation of …

Fabry disease is one of the most common lysosomal storage disorders caused by mutations
in the gene encoding lysosomal α-galactosidase A (α-Gal A) and resultant accumulation of …

The lysosomal storage disorder Fabry disease is characterized by a deficiency of the
lysosomal enzyme α-Galactosidase A. The observation that missense variants in the …