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

Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of
α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as …

among young patients with stroke, 16 there are no reports on the frequency of silent brain
infarcts in FD. Aseptic meningitis can occur concomitantly in Fabry patients who have had …

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of …

The hypertrophic cardiomyopathy phenotype encompasses a heterogeneous spectrum of
genetic and acquired diseases characterized by the presence of left ventricular hypertrophy …

Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:
117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element …

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by
the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X …

Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the
gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this …

Fabry disease is an X-linked lysosomal disorder (LD) due to deficiency of the enzyme α-
galactosidase A (αGal), which leads to the accumulation of neutral glycosphingolipids …

Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in
this X-linked globotriaosylceramide (Gb3) storage disorder. Elevated plasma …