Mortality in patients with Sanfilippo syndrome
Abstract Background Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant...
Guardat en:
| Autors principals: | , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2017-10-01
|
| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | http://link.springer.com/article/10.1186/s13023-017-0717-y |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|