Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF et al.
International Journal of Molecular Sciences, 2023
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
Cárdenas JM et al.
Molecular Syndromology, 2023
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H et al.
Bmc Genomics, 2022
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
Sohn YB et al.
Molecular Genetics and Metabolism Reports, 2022
Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease.
Montavon B et al.
Frontiers in Cardiovascular Medicine, 2022
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P et al.
Orphanet Journal of Rare Diseases, 2021
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
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Dos Santos-Lopes SS et al.
American Journal of Medical Genetics. Part A, 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
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Politei J et al.
Jimd Reports, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review.
Ge Z et al.
Bmc Pediatrics, 2021
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.
Erazo-Narváez AF et al.
Molecular Genetics and Metabolism Reports, 2020
Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.
Moisan L et al.
Orphanet Journal of Rare Diseases, 2020
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Wang RY et al.
Orphanet Journal of Rare Diseases, 2020
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez MA et al.
Heliyon, 2020
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H et al.
Molecular Genetics and Metabolism, 2018
Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation.
Moreno Giraldo LJ et al.
Molecular Genetics and Metabolism Reports, 2018
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.
Pintos-Morell G et al.
Molecular Genetics and Metabolism Reports, 2018
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Tapiero-Rodriguez SM et al.
The Application of Clinical Genetics, 2018
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Overcoming the barriers to diagnosis of Morquio A syndrome.
Bhattacharya K et al.
Orphanet Journal of Rare Diseases, 2014
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
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A et al.
Molecular Genetics and Metabolism, 2014
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Lachman RS et al.
Skeletal Radiology, 2014
Molecular genetic assay of mucopolysaccharidosis IVA in South China.
He D et al.
Gene, 2013
Diagnosing mucopolysaccharidosis IVA.
Wood TC et al.
Journal of Inherited Metabolic Disease, 2013
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mendelsohn NJ 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
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S et al.
Molecular Genetics and Metabolism, 2012
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Catarzi S et al.
Molecular Genetics and Metabolism, 2012
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Montaño AM et al.
Journal of Inherited Metabolic Disease, 2007
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Laradi S et al.
Molecular Genetics and Metabolism, 2006
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Tomatsu S et al.
Human Molecular Genetics, 2005
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Tomatsu S et al.
Journal of Medical Genetics, 2004