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Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.

The Turkish journal of pediatrics - 1 Jan 2000

Saltik-Temizel Inci Nur, Coşkun Turgay, Yüce Aysel, Koçak Nurten

Abstract excerpt

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.

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PMID: 16052858

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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