Associated Papers
Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.
Arnaboldi SMC et al.
Frontiers in Pediatrics, 2025
The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.
Li J et al.
Journal of Biomolecular Structure & Dynamics, 2024
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF et al.
International Journal of Molecular Sciences, 2023
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
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Wang RY et al.
Orphanet Journal of Rare Diseases, 2020
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Tapiero-Rodriguez SM et al.
The Application of Clinical Genetics, 2018
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A et al.
Human Mutation, 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
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Tomatsu S et al.
Human Mutation, 1997
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0