Associated Papers
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Lin HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M et al.
Journal of Inherited Metabolic Disease, 2022
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
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
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
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
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH et al.
Orphanet Journal of Rare Diseases, 2020
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Morrone A et al.
Human Mutation, 2014
25137622 (PubMed )
Supplement: humu0035-1271-sd1.pdf
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