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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:JIMD Rep
Huvudupphovsmän: Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley & Sons, Inc. 2019
Ämnen:
Research Reports
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk