Associated Papers
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 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
Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up.
Vergatti A et al.
European Journal of Case Reports in Internal Medicine, 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
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
Sohn YB et al.
Molecular Genetics and Metabolism Reports, 2022
Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease.
Montavon B et al.
Frontiers in Cardiovascular Medicine, 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
Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
Jezela-Stanek A et al.
Journal of Applied Genetics, 2019
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.
Pintos-Morell G et al.
Molecular Genetics and Metabolism Reports, 2018
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
Yassaee VR et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S et al.
Molecular Genetics and Metabolism, 2012
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Laradi S et al.
Molecular Genetics and Metabolism, 2006
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Tomatsu S et al.
Journal of Medical Genetics, 2004
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Sukegawa K et al.
Human Molecular Genetics, 2000
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0