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[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2013

Liang Cui-Li, Liu Li, Sheng Hui-Ying, Jiang Min-Yan, Yin Xi, Mei Hui-Fen, Cheng Jing, Zhang Wen, Fan Li-Ping

Abstract excerpt

OBJECTIVE: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze...

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PMID: 23965881

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

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