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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2016-05-01
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Series: | Nefrología (English Edition) |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2013251416300463 |