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Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is oft...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Society of Diabetic Nephropathy Prevention
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607972/ https://www.ncbi.nlm.nih.gov/pubmed/28975091 http://dx.doi.org/10.15171/jnp.2017.22 |