Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi–Bickel syndrome: revisited gene atlas for renumbering-Reference-Cited by-同舟云学术

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

Published:2012-02-18 Issue:4 Volume:16 Page:604-610
ISSN:1342-1751
Container-title:Clinical and Experimental Nephrology
language:en
Short-container-title:Clin Exp Nephrol

Author:

Al-Haggar Mohammad,Sakamoto Osamu,Shaltout Ali,Al-Hawari Amani,Wahba Yahya,Abdel-Hadi Dina

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Nephrology,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s10157-012-0603-9.pdf

Reference11 articles.

1. Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi–Bickel syndrome—the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr. 1998;157:783–97.

2. Santer R, Steinmann B, Schaub J. Fanconi–Bickel syndrome—a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213–27.

3. Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi–Bickel syndrome. Pediatr Res. 2000;48:586–9.

4. Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S. Fanconi–Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. Clin Exp Nephrol. 2011;15:745–8.

5. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi–Bickel syndrome. Nat Genet. 1997;17:324–6.

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1. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome;Orphanet Journal of Rare Diseases;2024-02-16

2. Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes;Pancreatic ß-Cell Biology in Health and Disease;2021

3. Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia;International Journal of Molecular Sciences;2020-08-31

4. Hepatocellular Carcinoma in Fanconi-Bickel Syndrome;Pediatric and Developmental Pathology;2017-04-06

5. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2;The Indian Journal of Pediatrics;2016-10-14

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