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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathoge...

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Principais autores: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, Noémie Jourde-Chiche, Mickaël Bobot
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-06-01
Serier:BMC Medical Genetics
Fag:
Fabry disease
Female
Phenotype
GLA variant
lysoGb3
Renal involvement
Online adgang:http://link.springer.com/article/10.1186/s12881-020-01071-5
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