Cargando…
Fabry disease. A potential pitfall A family with a novel intronic mutation
Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise....
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129647/ https://www.ncbi.nlm.nih.gov/pubmed/30211005 http://dx.doi.org/10.1016/j.ymgmr.2018.07.001 |