Fabry disease. A potential pitfall A family with a novel intronic mutation

Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise....

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Detalles Bibliográficos
Autores principales: Cabrera, Gustavo, Perretta, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129647/
https://www.ncbi.nlm.nih.gov/pubmed/30211005
http://dx.doi.org/10.1016/j.ymgmr.2018.07.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129647/
https://www.ncbi.nlm.nih.gov/pubmed/30211005
http://dx.doi.org/10.1016/j.ymgmr.2018.07.001

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