Associated Papers
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).
Sung J et al.
Molecular Genetics and Metabolism Reports, 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
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Leong HY et al.
Orphanet Journal of Rare Diseases, 2019
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
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Park HD et al.
American Journal of Medical Genetics. Part A, 2013
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.
Lee NH et al.
Korean Journal of Pediatrics, 2012
Select a paper to view details