Associated Papers
Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series.
Kenth J et al.
Orphanet Journal of Rare Diseases, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H et al.
Bmc Genomics, 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
Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA.
Kenth JJ et al.
Data in Brief, 2019
The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis.
Kenth JJ et al.
Molecular Genetics and Metabolism Reports, 2019
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H et al.
Molecular Genetics and Metabolism, 2018
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case.
Do Cao J et al.
Molecular Genetics and Metabolism Reports, 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
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 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
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Yasuda E et al.
Molecular Genetics and Metabolism, 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
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
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
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Bunge S et al.
Human Mutation, 1997
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
Tomatsu S et al.
American Journal of Human Genetics, 1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.
Tomatsu S et al.
Human Molecular Genetics, 1995
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0