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
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L et al.
Diagnostics (basel, Switzerland), 2022
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Tang J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
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