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 …

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

The blood–brain barrier (BBB) forms a protective barrier around the brain, with the important
function of maintaining brain homeostasis. Pathways thought to initiate BBB dysfunction …

Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the
defective activity of lysosomal proteins, resulting in accumulation of unmetabolized …

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …

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 …

Current therapies for Fabry disease are based on reversing intracellular accumulation of
globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated …

Background Fabry disease is caused by α-galactosidase A deficiency. Substrates of this
lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience …

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 …

Mitochondrial dysfunction is emerging as an important contributory factor to the
pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial …