Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.

Lin, Hsiang-Yu

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. [electronic resource] - American journal of medical genetics. Part A 09 2018 - 1799-1809 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.40351 doi


Acetylglucosaminidase--genetics
Adolescent
Adult
Biomarkers
Child
Child, Preschool
DNA Mutational Analysis
Electroencephalography
Enzyme Activation
Female
Genetic Association Studies
Humans
Kaplan-Meier Estimate
Male
Mucopolysaccharidosis III--diagnosis
Multimodal Imaging--methods
Mutation
Phenotype
Retrospective Studies
Symptom Assessment
Taiwan
Young Adult