References
Al-Hoggar M., Sakamoto D., Shaltout A., AL-Hawari A., Wahba Y. and Abdel-Hid D. 2012 Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi–Bickel syndrome: revisited gene atlas for renumbering. Clin. Exp. Nephrol. 16, 604–610.
Fanconi G. and Bickel H. 1949 Die chronische aminoaciduria beiderGlykogenose and der cystinkrankheit. Helv. Paediatr. Acta. 4, 459–496.
Gopalakrishnan A., Kumar M., Krishnamurthy S., Sakamoto O. and Srinivason S. 2011 Fanconi–Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. Clin. Exp. Nephrol. 15, 745–748.
Konus O. L., Ozdemir A., Akkaya A., Erbas G., Celik H. and Isik S. 1998 Normal liver, spleen and kidney dimensions in neonates, infants, and children: evaluation with sonography. Am. J. Roentgenol. 171, 1693–1698.
Leturgue A., Brot-laroche E. and Le Gall M. 2009 GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am. J. Physiol. Endocrinol. Metab. 296, e985–e992.
Mariz F., Bickel H., Brodehl J., Feist D., Gellissen K. and Gescholl B. 1987 Fanconi Bickel syndrome. Pediatr. Nephrol. 1, 509–518.
Ozer E. A., Aksu N., Uclar E., Erdogan H., Bakiler A. R., Tsuda M. et al. 2003 No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi–Bickel syndrome. Pediatr. Nephrol. 18, 397–398.
Peduto A., Spoda M., Alluto A., Dolcetta M., Ponzone A. and Santer R. 2004 A novel mutation in the GLUT2 gene in a patient with Fanconi–Bickel syndrome detected by neonatal screening for galactosemia. J. Inherit. Metab. Dis. 27, 279–280.
Sakamoto O., Ogawa E., Ohura T., Igarashi Y., Matsubara Y. and Narisawo K. 2000 Mutation analysis of the GLUT2 gene in patients with Fanconi–Bickel syndrome. Pediatr. Res. 48, 586–589.
Saltik-Temizel I. N., Coşkun T., Yüce A. and Koçak N. 2005 Fanconi–Bickel syndrome in three Turkish patients with different homozygous mutations. Turk. J. Pediatr. 47, 167–169.
Santer R., Schneppenheim R., Suter D., Schaub J. and Steinmann B. 1998 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. 157, 783–797.
Santer R., Steinmann B. and Schaub J. 2002a Fanconi–Bickel syndrome — a congenital defect of facilitative glucose transport. Curr. Mol. Med. 2, 213–227.
Santer R., Groth S., Kinner M., Dombrowski A., Berry G. T., Brodehl J. et al. 2002b The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome. Hum. Genet. 110, 21–29.
Simşek E., Savaş-Erdeve S., Sakamoto O., Doğanci T. and Dallar Y. 2009 A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi–Bickel syndrome. Turk. J. Pediatr. 51, 166–168.
Yoo H. W., Shin Y. L., Seo E. J. and Kim G. H. 2002 Identification of a novelmutation in the GLUT2 gene in a patient with Fanconi–Bickel syndrome presenting with neonatal diabetes mellitus and galactosemia. Eur. J. Pediatr. 161, 351–353.
Acknowledgements
The authors would like to thank Dr Nasrin Shokrpour at Center for Development of Clinical Research of Nemazee Hospital for editorial assistance. Z Karamizadeh is a professor of Pediatric Endocrinology. F Saki is a fellowship of Pediatric Endocrinology. MH Imanieh is a professor of Pediatric Gastroenterology. M Zahmatkeshan is an associate professor of Pediatric Gastroenterology. M Fardaee is a PhD of Genetic.
Author information
Authors and Affiliations
Corresponding author
Additional information
[Karamizadeh Z., Saki F., Imanieh M. H., Zahmatkeshan M. and Fardaee M. 2012 A new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri. J. Genet. 91, xx–xx]
Rights and permissions
About this article
Cite this article
Karamizadeh, Z., Saki, F., Imanieh, M.H. et al. A new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri. J Genet 91, 359–361 (2012). https://doi.org/10.1007/s12041-012-0198-7
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-012-0198-7