Mortality in patients with Sanfilippo syndrome

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 accumul...

Descripción completa

Detalles Bibliográficos
Autores principales: Lavery, Christine, Hendriksz, Chris J., Jones, Simon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654004/
https://www.ncbi.nlm.nih.gov/pubmed/29061114
http://dx.doi.org/10.1186/s13023-017-0717-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654004/
https://www.ncbi.nlm.nih.gov/pubmed/29061114
http://dx.doi.org/10.1186/s13023-017-0717-y

Ejemplares similares