Browsing Articles publicats (IRBLleida) by Subject "Fabry disease"
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Fabry nephropathy: an evidence-based narrative review
(Karger Publishers Open Access, 2018)Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide ...