Literature DB >> 16052858

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

Inci Nur Saltik-Temizel1, Turgay Coşkun, Aysel Yüce, Nurten Koçak.   

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.

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Year:  2005        PMID： 16052858

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN： 0041-4301            Impact factor:   0.552


  7 in total

1.  Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.

Authors:  Mohammad Al-Haggar
Journal:  World J Nephrol       Date:  2012-06-06

2.  A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri.

Authors:  Zohreh Karamizadeh; Forough Saki; Mohammad Hadi Imanieh; Mojgan Zahmatkeshan; Majid Fardaee
Journal:  J Genet       Date:  2012       Impact factor: 1.166

3.  Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

Authors:  Elena Fridman; Avraham Zeharia; Tal Markus-Eidlitz; Yishai Haimi Cohen
Journal:  JIMD Rep       Date:  2014-04-10

4.  Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.

Authors:  Mohammad Al-Haggar; Osamu Sakamoto; Ali Shaltout; Amani Al-Hawari; Yahya Wahba; Dina Abdel-Hadi
Journal:  Clin Exp Nephrol       Date:  2012-02-18       Impact factor: 2.801

Review 5.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

6.  Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families.

Authors:  Mohammad Al-Haggar; Osamu Sakamoto; Ali Shaltout; Amany El-Hawary; Yahya Wahba; Dina Abdel-Hadi
Journal:  Case Rep Nephrol       Date:  2011-07-28

Review 7.  Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Authors:  Sanaa Sharari; Mohamad Abou-Alloul; Khalid Hussain; Faiyaz Ahmad Khan
Journal:  Int J Mol Sci       Date:  2020-08-31       Impact factor: 5.923
  7 in total

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