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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

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 pathogenicity o...

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Detalles Bibliográficos
Autores principales:	Greillier, Sophie, Daniel, Laurent, Caillaud, Catherine, Dussol, Bertrand, Touchard, Guy, Goujon, Jean-Michel, Jourde-Chiche, Noémie, Bobot, Mickaël
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320597/ https://www.ncbi.nlm.nih.gov/pubmed/32590976 http://dx.doi.org/10.1186/s12881-020-01071-5

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