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
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 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
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 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
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Peretz RH et al.
American Journal of Medical Genetics. Part A, 2020
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
Cozma C et al.
Plos One, 2015
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
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Davison JE et al.
Journal of Inherited Metabolic Disease, 2013
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.
Villani GR et al.
Journal of Inherited Metabolic Disease, 2012
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
Wang Z et al.
Journal of Human Genetics, 2010
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Tomatsu S et al.
Human Mutation, 2004