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Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?

Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb(3)) and related glycosphingolipids in many cell types...

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書目詳細資料
Main Authors: Waldek, Stephen, Feriozzi, Sandro
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029839/
https://ncbi.nlm.nih.gov/pubmed/24886109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-15-72
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