Multiple parapelvic cysts in Fabry disease

Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends...

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Bibliographic Details
Main Authors: María A. Azancot, Josefa Vila, Carmen Domínguez, Xavier Serres, Eugenia Espinel
Format: Article
Language:English
Published: Elsevier 2016-05-01
Series:Nefrología (English Edition)
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251416300463