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 …

Despite improvements in diagnosis and treatment, ischaemic stroke in young adults remains
a catastrophic event from the patients' perspective. Stroke can cause death, disability, and …

Background and Purpose—Strokes have especially devastating implications if they occur
early in life; however, only limited information exists on the characteristics of acute …

Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-
galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals …

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 disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …

Background Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …

Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by
mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A) …

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 …

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the
accumulation of glycolipids including globotriaosylceramide in cells of various tissues …