TY  - JOUR 
AU  - Gónzalez-Meneses, Antonio
AU  - Pineda, Mercè
AU  - Bandeira, Anabela
AU  - Janeiro, Patrícia
AU  - Ruiz, María Ángeles
AU  - Diogo, Luisa
PY  - 2021
UR  - https://uvadoc.uva.es/handle/10324/64719
AB  - Background: Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited defciency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is...
LA  - spa
PB  - BMC
KW  - Mucopolysaccharidosis, Sly syndrome, Rare disease, MPS VII
TI  - Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
DO  - 10.1186/s13023-021-02063-1
ER  -