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Early Renal Involvement in a Girl with Classic Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversia...

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Bibliografiske detaljer
Udgivet i:Case Rep Nephrol
Main Authors: Perretta, Fernando, Antongiovanni, Norberto, Jaurretche, Sebastián
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5642869/
https://ncbi.nlm.nih.gov/pubmed/29098097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/9543079
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