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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

René Santer

Department of Pediatrics

University Children's Hospital

Schwanenweg 20

24105 Kiel



Name/email consistency: high



  • Department of Pediatrics, University Children's Hospital, Schwanenweg 20, 24105 Kiel, Germany. 2002 - 2003
  • Department of Pediatrics, University of Kiel, Germany. 2003
  • University Children's Hospital, Germany. 1998 - 2002


  1. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. Santer, R., Hillebrand, G., Steinmann, B., Schaub, J. Gastroenterology (2003) [Pubmed]
  2. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Santer, R., Fingerhut, R., Lässker, U., Wightman, P.J., Fitzpatrick, D.R., Olgemöller, B., Roscher, A.A. Clin. Chem. (2003) [Pubmed]
  3. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Santer, R., Muhle, H., Suormala, T., Baumgartner, E.R., Duran, M., Yang, X., Aoki, Y., Suzuki, Y., Stephani, U. Mol. Genet. Metab. (2003) [Pubmed]
  4. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G.T., Brodehl, J., Leonard, J.V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B., Schaub, J. Hum. Genet. (2002) [Pubmed]
  5. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Santer, R., Steinmann, B., Schaub, J. Curr. Mol. Med. (2002) [Pubmed]
  6. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. Santer, R., Kinner, M., Passarge, M., Superti-Furga, A., Mayatepek, E., Meissner, T., Schneppenheim, R., Schaub, J. Hum. Genet. (2001) [Pubmed]
  7. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.L., Chen, Y.T., Schneppenheim, R., Schaub, J. Eur. J. Hum. Genet. (2001) [Pubmed]
  8. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Santer, R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub, J., Schneppenheim, R. Hum. Mutat. (2000) [Pubmed]
  9. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Santer, R., Schneppenheim, R., Suter, D., Schaub, J., Steinmann, B. Eur. J. Pediatr. (1998) [Pubmed]
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