Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 2025
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Chuang CK et al.
Diagnostics (basel, Switzerland), 2021
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
He MF et al.
Bmc Ophthalmology, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R et al.
Human Mutation, 2018
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.
Lin HY et al.
Molecular Genetics and Metabolism Reports, 2016
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F et al.
The Application of Clinical Genetics, 2015
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
Zheng J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Lin WD et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Yang CF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2001