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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Bibliographic Details
Main Authors: Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Format: Article
Language:English
Published: Wiley 2017-01-01
Series:Case Reports in Nephrology
Online Access:http://dx.doi.org/10.1155/2017/9543079
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