An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene

Fabry disease (FD) is one of the most common lysosomal storage disorders and is caused by an X-linked progressive inborn error of metabolism in the alpha-galactosidase A (α-Gal A) gene. This leads to intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), throughout the...

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Detalles Bibliográficos
Autores principales: Sarsam, Luay, Arouni, Amy, Mahfood Haddad, Toufik, Onaiwu, Cherry O, Erickson, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Cardiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153810/
https://www.ncbi.nlm.nih.gov/pubmed/32292674
http://dx.doi.org/10.7759/cureus.7262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153810/
https://www.ncbi.nlm.nih.gov/pubmed/32292674
http://dx.doi.org/10.7759/cureus.7262

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