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.
How to cite
1.
Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr 2005; 47: 167-169. https://doi.org/10.24953/turkjped.2005.2706