Loading...
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...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer Berlin Heidelberg
2014
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4186980/ https://ncbi.nlm.nih.gov/pubmed/24992926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00441-014-1922-9 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|