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Article

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

Annals of clinical and laboratory science - 1 Jan 2012

Sohn Young Bae, Park Hyung-Doo, Park Sung Won, Kim Se-Hwa, Cho Sung-Yoon, Ko Ah-Ra, Ki Chang-Seok, Yeau Sunghee, Jin Dong-Kyu

Abstract excerpt

Mutations in the GLB1 gene, which encodes acid β-galactosidase, can result in two disease phenotypes: GM1-gangliosidosis (MIM #230500) and Morquio B disease (Mucopolysaccharidosis type IVB, MIM #253010). Morquio B disease occurs much more infrequently than GM1-gangliodosis and is characterized by severe skeletal manifestations (dysostosis multiplex) without central nervous system involvement. Here, we report the...

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Identifiers

PMID: 22371915

Genes

GLB1

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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