PMC:7274950 / 1499-1869
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/7274950","sourcedb":"PMC","sourceid":"7274950","source_url":"https://www.ncbi.nlm.nih.gov/pmc/7274950","text":"Fabry disease (FD) is a progressive, X-linked inherited lysosomal storage disorder caused by mutations in the α-Galactosidase A gene (GLA). Partial or complete deficiency of the enzyme α-Galactosidase A (α-Gal A) results in a progressive accumulation of lipids, primarily globotriaosylceramide (Gb3) and its deacylated derivative globotriaosylsphingosine (lyso-Gb3) 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