Article
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Journal of pediatric endocrinology & metabolism : JPEM - 24 May 2020
Kong Weijing, Meng Yan, Zou Liping, Yang Guang, Wang Jing, Shi Xiuyu
Abstract excerpt
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III. Method Thirty four patients with MPS III were assessed using clinical evaluation,...
Topics
- Adolescent
- Child
- China
- Cohort Studies
- DNA Mutational Analysis
- Diagnostic Techniques, Endocrine
- Disease Progression
- Female
- Humans
- Male
- Molecular Diagnostic Techniques
- Mucopolysaccharidosis III
- Mutation
- Physical Examination
- Prevalence
- Prognosis
- Surveys and Questionnaires