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[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2015

Wang Wei, Wei Min, Song Hong-Mei, Qiu Zheng-Qing, Zhang Le-Jia, Li Zhuo, Tang Xiao-Yan

Abstract excerpt

Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations. The study reported 3 cases of FBS who were confirmly diagnosed by SLC2A2 gene analysis. The three patients showed typical features like glycogen storage disease and proximal renal tubular nephropathy. Homozygous splice-site mutation IVS8+5G>C (c.1068+5 G>C) was found...

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PMID: 25919556

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

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