Associated Papers
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.
Moeinifar N et al.
Molecular Biology Reports, 2025
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Noyan B et al.
Molecular Syndromology, 2024
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.
Kim YE et al.
Annals of Laboratory Medicine, 2013
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