Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or
deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A …

The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An
increase in the number of preclinical and clinical studies in the last decade has …

Fabry disease is an X-linked lysosomal storage disease caused by pathogenetic variants in
α-galactosidase A gene (GLA) resulting in absent/deficient α-galactosidase A (α-Gal A) …

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 …

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

Abstract Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder
that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the …

Migalastat (1-deoxygalactonojirimycin) is approved for the treatment of Fabry disease (FD)
in patients with an amenable mutation. Currently, there are at least 367 amenable and 711 …

Anderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid
accumulation in cardiac cells, associated with a peculiar form of hypertrophic …

Background Classic Fabry disease is caused by GLA mutations that result in loss of
enzymatic activity of alpha-galactosidase A, lysosomal storage of globotriaosylceramide …

Fabry disease (FD) is a rare X-linked disease due to a multiverse of disrupting mutations
within the GLA gene encoding lysosomal α-galactosidase A (AGAL). Absent AGAL activity …