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Article

[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2013

Liu Yan-yan, Bao Xin-hua, Wang Shuang, Fu Na, Liu Xiao-yan, Song Fu-ying, Yang Yan-ling, Wu Ye, Zhang Yue-hua, Wu Jian-xin, Jiang Yu-wu, Qin Jiong, Wu Xi-ru

Abstract excerpt

OBJECTIVE: To analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome. METHOD: The detailed clinical manifestations of six cases were recorded. The laboratory tests including EEG, MRI, blood chemistry, and lumbar puncture were performed. SLC2A1 gene mutations were analyzed by PCR, DNA sequencing and multiplex ligation-dependent probe amplification (MLPA)....

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Share to Carbohydrate Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24120063

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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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