The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

BACKGROUND: Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body. FD has a...

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Библиографические подробности
Опубликовано в: :BMC Nephrol
Главные авторы: Mallett, Andrew, Kearey, Phoebe, Cameron, Anne, Healy, Helen, Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha, Fuller, Maria, Hoy, Wendy E.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Study Protocol
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7035781/
https://ncbi.nlm.nih.gov/pubmed/32087678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-01717-9
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