title: Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
abstract: Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.
authors.affiliation: Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Inci Nur
authors.initials: IN
authors.lastname: Saltik-Temizel
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
authors.forename: Nurten
authors.initials: N
authors.lastname: Koçak
mesh_terms: D005198:Fanconi Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051273:Glucose Transporter Type 2; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D014421:Turkey
chemical_list: D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins