Cargando…
Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.
Fabry disease is a monogenic X-linked lysosomal storage disease caused by α-galactosidase A (αGalA) deficiency. Enzyme replacement therapy through administration of the missing αGalA is currently the only accepted therapeutic option. However, this treatment is connected to high costs, has ill-define...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186980/ https://www.ncbi.nlm.nih.gov/pubmed/24992926 http://dx.doi.org/10.1007/s00441-014-1922-9 |