Associated Papers
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.
Feo F et al.
Stem Cell Research, 2025
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).
Sung J et al.
Molecular Genetics and Metabolism Reports, 2025
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 diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
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
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
Tummolo A et al.
Case Reports in Medicine, 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
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Laradi S et al.
Molecular Genetics and Metabolism, 2006
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
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
Kato Z et al.
Human Genetics, 1997
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