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Article

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

Annals of laboratory medicine - 1 May 2013

Kim Young-Eun, Park Hyung-Doo, Jang Mi-Ae, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Cho Sung Yoon, Jin Dong-Kyu

Abstract excerpt

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back. He had mild dysmorphic features with prominent speech...

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Identifiers

PMID: 23667853
DOI: 10.3343/alm.2013.33.3.221
PMCID: PMC3646201

Genes

NAGLU

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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