TY  - JOUR
AU  - Gónzalez-Meneses, Antonio
AU  - Pineda, Mercè
AU  - Bandeira, Anabela
AU  - Janeiro, Patrícia
AU  - Ruiz, María Ángeles
AU  - Diogo, Luisa
AU  - Cancho-Candela, Ramón
PY  - 2021
DO  - 10.1186/s13023-021-02063-1
UR  - https://hdl.handle.net/10668/27332
T2  - Orphanet journal of rare diseases
AB  - 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...
LA  - en
KW  - MPS VII
KW  - Mucopolysaccharidosis
KW  - Rare disease
KW  - Sly syndrome
KW  - Europe
KW  - Humans
KW  - Mucopolysaccharidosis VII
KW  - Portugal
KW  - Spain
TI  - Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
TY  - research article
VL  - 16
ER  -