Prevalence of Fabry disease in male dialysis patients: Argentinean screening study

BACKGROUND: Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other organs. The aim of this study was to estimate the prevalence of Fab...

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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Research Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606982/
https://ncbi.nlm.nih.gov/pubmed/31392112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12035
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