Associated Papers
Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.
Kilavuz S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2022
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 › TableS2_All_variants
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
Kılavuz S et al.
Orphanet Journal of Rare Diseases, 2021
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
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0
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