The Turkish Journal of Pediatrics 2005 , Vol 47 , Num 2
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations
1Sections of Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Sections of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey
3Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Saltık-Temizel İN, Coşkun T, Yüce A, Koçak N. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr 2005; 47: 167-169.

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. Keywords : Fanconi-Bickel syndrome, glycogenosis, mutation analysis

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