Associated Papers
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.
Haleem AA
Cellular and Molecular Biology (noisy-le-grand, France), 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
Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p.S162Y and p.C165F mutation.
Jiang X et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H et al.
Bmc Genomics, 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
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Wang RY et al.
Orphanet Journal of Rare Diseases, 2020
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Lin HY et al.
Diagnostics (basel, Switzerland), 2019
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Leong HY et al.
Orphanet Journal of Rare Diseases, 2019
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
Xie J et al.
Gene, 2019
Hematopoietic stem cell transplantation for Morquio A syndrome.
Yabe H et al.
Molecular Genetics and Metabolism, 2016
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
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
Olarte-Avellaneda S et al.
Molecular Biology Reports, 2014
Molecular genetic assay of mucopolysaccharidosis IVA in South China.
He D et al.
Gene, 2013
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
Wang Z et al.
Journal of Human Genetics, 2010
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
Yang CF et al.
Human Mutation, 2001
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Ogawa T et al.
Human Molecular Genetics, 1995
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0