Associated Papers
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.
Feo F et al.
Stem Cell Research, 2025
Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series.
Kenth J et al.
Orphanet Journal of Rare Diseases, 2024
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
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 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
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A et al.
Molecular Genetics and Metabolism, 2014
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Davison JE et al.
Journal of Inherited Metabolic Disease, 2013
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