Results: 3

Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis

Colomb. med; 51 (3), 2020
Abstract Objective: To assess the functional independence of a group of patients with mucopolysaccharidosis using the Functional Independence Measure as a tool that accomplishes this purpose. Methods: This is a cross-sectional study of patients with mucopolysaccharidosis. Our data was collected between...

Audiometric evaluation in individuals with mucopolysaccharidosis

Clinics; 73 (), 2018
OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hu...

Mucopolisacaridosis: características clínicas, diagnóstico y de manejo

Rev. chil. pediatr; 87 (4), 2016
Las mucopolisacaridosis (MPS) son un grupo de enfermedades raras (huérfanas), de baja prevalencia, caracterizadas por la deficiencia de enzimas que participan en el metabolismo de glucosaminglucanos (GAG) a nivel lisosomal. Se caracteriza por acumulación de GAG intracelular, produciendo alteraciones de...