Cargando…
Variable phenotypic presentations of renal involvement in Fabry disease: a case series
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal func...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000 Research Limited
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930549/ https://www.ncbi.nlm.nih.gov/pubmed/29770213 http://dx.doi.org/10.12688/f1000research.13708.1 |