Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

BACKGROUND: Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live...

Descripción completa

Detalles Bibliográficos
Autores principales: Gónzalez-Meneses, Antonio, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532367/
https://www.ncbi.nlm.nih.gov/pubmed/34686181
http://dx.doi.org/10.1186/s13023-021-02063-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532367/
https://www.ncbi.nlm.nih.gov/pubmed/34686181
http://dx.doi.org/10.1186/s13023-021-02063-1

Ejemplares similares