Cargando…
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
BACKGROUND: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). METHODS: A diagnosis of MPS II...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247178/ https://www.ncbi.nlm.nih.gov/pubmed/32448126 http://dx.doi.org/10.1186/s12881-020-01051-9 |