Associated Papers
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
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A et al.
Human Mutation, 2015
Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the GALNS Gene.
Cai K et al.
Congenital Anomalies, 0
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