Browsing by Subject "Fabry disease"
Now showing items 1-2 of 2
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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 ... -
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy
(Sociedad Española de Nefrología; Elsevier, 2021)Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and ...