Associated Papers
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
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
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A et al.
Human Mutation, 2015
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
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
Select a paper to view details