Associated Papers
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020
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
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H et al.
Molecular Genetics and Metabolism, 2018
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 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
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
Montaño AM et al.
Journal of Inherited Metabolic Disease, 2007
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
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
Montaño AM et al.
Human Genetics, 2003
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
Terzioglu M et al.
Human Mutation, 2002
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
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
Yamada N et al.
Human Mutation, 1998
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
Hendriksz CJ 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
[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
Bruskina VIa et al.
Tsitologiia I Genetika, 0