These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW. Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651 [Abstract] [Full Text] [Related]
10. Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. Al-Haggar M, Sakamoto O, Shaltout A, Al-Hawari A, Wahba Y, Abdel-Hadi D. Clin Exp Nephrol; 2012 Aug; 16(4):604-10. PubMed ID: 22350464 [Abstract] [Full Text] [Related]
11. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Turk J Pediatr; 2017 Aug; 59(4):434-441. PubMed ID: 29624224 [Abstract] [Full Text] [Related]
13. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA. Clin Genet; 2007 Jun; 71(6):551-7. PubMed ID: 17539904 [Abstract] [Full Text] [Related]
15. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N. Turk J Pediatr; 2005 Jun; 47(2):167-9. PubMed ID: 16052858 [Abstract] [Full Text] [Related]
16. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant. Batool H, Zubaida B, Hashmi MA, Naeem M. J Pediatr Endocrinol Metab; 2019 Nov 26; 32(11):1229-1233. PubMed ID: 31473689 [Abstract] [Full Text] [Related]
19. Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. J Inherit Metab Dis; 1998 Jun 26; 21(3):191-4. PubMed ID: 9686354 [No Abstract] [Full Text] [Related]