Carregant...
Hurler–Scheie syndrome in Niger: a case series
BACKGROUND: Hurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first documented cases of Hurler–Scheie syndrome observed in Niger...
Guardat en:
| Publicat a: | J Med Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6482501/ https://ncbi.nlm.nih.gov/pubmed/31018863 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-019-2047-2 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|