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Article

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2017

Zeng Qingwen, Fan Yanjie, Wang Lili, Huang Zhuo, Gu Xuefan, Yu Yongguo

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy. Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice. This misdiagnosis could be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28306536
DOI: 10.1515/jpem-2016-0333

Genes

NAGLU

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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