Associated Papers
Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.
Yalcin K et al.
Bone Marrow Transplantation, 2025
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
Cárdenas JM et al.
Molecular Syndromology, 2023
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
34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TabS4_GenotypesLiterature
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
Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA.
Kenth JJ et al.
Data in Brief, 2019
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Tüysüz B et al.
Gene, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
31046801 (PubMed )
Supplement: 13023_2019_1076_MOESM2_ESM.docx
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
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
25137622 (PubMed )
Supplement: humu0035-1271-sd1.pdf
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 2014
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Tomatsu S et al.
Journal of Human Genetics, 2004
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