Condition: Fanconi-Bickel Syndrome


rs121909743 in SLC2A2 gene and Fanconi-Bickel Syndrome PMID 27487919 2016 Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.

PMID 24718840 2015 Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

PMID 11810292 2002 The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

PMID 22145468 2011 Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.

PMID 11044475 2000 Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

PMID 10987651 1999 A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

PMID 25919556 2015 [SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].