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Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement
Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3) leads to its progressive lysosomal accumula...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Professional Medical Publications
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676584/ https://www.ncbi.nlm.nih.gov/pubmed/36415271 http://dx.doi.org/10.12669/pjms.38.8.7063 |