Associated Papers
Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
Ago Y et al.
International Journal of Molecular Sciences, 2025
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
Zabihi R et al.
Frontiers in Genetics, 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
Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.
Singh A et al.
Indian Pediatrics, 2017
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s2.pdf
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 2014
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