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Fabry disease and its cardiac involvement
Fabry disease (FD) is an X‐linked lysosomal storage disorder that results from a deficiency of α‐galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, ren...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5689443/ https://www.ncbi.nlm.nih.gov/pubmed/29264031 http://dx.doi.org/10.1002/jgf2.76 |