Article
Screening of Fabry Disease of patients in renal replacement therapy in a population from Lazio (Italy).
European review for medical and pharmacological sciences - 1 Apr 2023
Marrone G, Angelico R, Di Lauro M, Sargentini E, Manzia T M, Tisone G, Mitterhofer A P, Della Morte Canosci D, Tesauro M, Di Daniele N, Noce A
Abstract excerpt
OBJECTIVE: Fabry's disease (FD) is a genetic disorder of lysosomal storage characterized by the intralysosomal accumulation of globotriaosylceramide (Gb3). This genetic mutation causes a total or partial deficit of the α-galactosidase (GAL) enzyme activity. FD has an incidence of 1:40000-60000 born alive. Its prevalence is higher in specific pathological conditions like chronic kidney disease (CKD). The aim of...
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