Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pathology
Volume 2011, Article ID 314696, 3 pages
Case Report

Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

Department of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, India

Received 9 July 2011; Accepted 16 August 2011

Academic Editors: A. Arslantas, M. M. Picken, and D. Tsuruta

Copyright © 2011 Mahua Roy et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. G. Fanconi and H. Bickel, “Die chronische aminoacidurie (Aminosaeurediabetesodernephrotischglukosurischer Zwergwuchs) bei der glykogenoseund der cystinkrankheit,” Helvetica Paediatrica Acta, vol. 4, pp. 359–396, 1949. View at Google Scholar
  2. J. M. Pascual, “Hereditary syndrome of glucose transport,” Medicina Clinica, vol. 127, no. 18, pp. 709–714, 2006. View at Publisher · View at Google Scholar · View at Scopus
  3. R. Garty, M. Cooper, and E. Tabachnik, “The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose,” Journal of Pediatrics, vol. 85, no. 6, pp. 821–823, 1974. View at Google Scholar
  4. J. L. Velasquez, “Síndrome de Fanconi,” Boletín médico del Hospital Infantil de México, vol. 44, pp. 509–510, 1987. View at Google Scholar
  5. R. Santer, R. Schneppenheim, D. Suter, J. Schaub, and B. Steinmann, “Fanconi-Bickel syndrome-the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature,” European Journal of Pediatrics, vol. 157, no. 10, pp. 783–797, 1998. View at Publisher · View at Google Scholar
  6. L. Velasquez-Jones, H. V. Portillo, R. Sanjines, A. Gamboa-Marrufo, K. Feria-Kaiser, and P. Valencia-Mayoral, “Síndrome de Fanconi—Bickel,” Boletín médico del Hospital Infantil de México, vol. 48, pp. 255–259, 1991. View at Google Scholar
  7. R. Santer, B. Steinmann, and J. Schaub, “Fanconi-Bickel syndrome—a congenital defect of facilitative glucose transport,” Current Molecular Medicine, vol. 2, no. 2, pp. 213–227, 2002. View at Google Scholar
  8. D. deVivo, M. Leckie, J. Ferrendelli, and D. McDougal, “Chronic ketosis and cerebral metabolism,” Annals of Neurology, vol. 3, no. 4, pp. 331–337, 1978. View at Google Scholar
  9. O. Sakamoto, E. Ogawa, T. Ohura et al., “Mutation analysis of the GLUT2 gene in patients with fanconi-bickel syndrome,” Pediatric Research, vol. 48, no. 5, pp. 586–589, 2000. View at Google Scholar · View at Scopus
  10. S. Karande, N. Kumbhare, and M. Kulkarni, “Fanconi-Bickel syndrome,” Indian Pediatrics, vol. 44, no. 3, pp. 223–225, 2007. View at Google Scholar · View at Scopus