Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

BACKGROUND: Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐Gal A) enzyme activity, the absence of Me...

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Detalles Bibliográficos
Autores principales: Cerón‐Rodríguez, Magdalena, Ramón‐García, Guillermo, Barajas‐Colón, Edgar, Franco‐Álvarez, Isidro, Salgado‐Loza, Juan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825844/
https://www.ncbi.nlm.nih.gov/pubmed/31566927
http://dx.doi.org/10.1002/mgg3.981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825844/
https://www.ncbi.nlm.nih.gov/pubmed/31566927
http://dx.doi.org/10.1002/mgg3.981

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