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Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study

AIM: To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. BACKGROUND: FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developi...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, Thomas, Mark
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6956474/
https://ncbi.nlm.nih.gov/pubmed/31931840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1290-3
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