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Article

Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.

Clinica chimica acta; international journal of clinical chemistry - 18 Apr 2013

Tang Jia, Pan Jingxin, Guo Yibin, Ai Yang, Jiang Weiying, Du Minlian, Fang Qun

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal storage disorder caused by over 130 mutations in NAGLU gene. However, there are not much mutations that have been reported in China. Here we studied five MPS IIIB patients from three unrelated Chinese families. METHODS: Urine test and NAGLU activity assay were used to validate the patients' type of MPS. We performed DNA analyses by direct...

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Identifiers

PMID: 23380547
DOI: 10.1016/j.cca.2013.01.009

Genes

NAGLU

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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