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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2020
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| Materias: | |
| 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 |