Associated Papers
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Urizar E et al.
Genes, 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
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
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: identification of mutations and methylation study in GALNS gene.
Tomatsu S et al.
Journal of Medical Genetics, 2004
Select a paper to view details