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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Bibliografski detalji

Glavni autori:	Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, Noémie Jourde-Chiche, Mickaël Bobot
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2020-06-01
Serija:	BMC Medical Genetics
Teme:	Fabry disease Female Phenotype GLA variant lysoGb3 Renal involvement
Online pristup:	http://link.springer.com/article/10.1186/s12881-020-01071-5
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