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

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

Abstract 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 100,0...

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Bibliographic Details
Main Authors: Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis
Sly syndrome
Rare disease
MPS VII
Online Access:https://doi.org/10.1186/s13023-021-02063-1

Internet

https://doi.org/10.1186/s13023-021-02063-1

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