Prof. Dr. ID: 71389

Rene Santer

graph of relations

Publications

  1. 2003
  2. 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., 2003, In: MOL GENET METAB. 79, 3, p. 160-166 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. 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., 2003, In: CLIN CHEM. 49, 4, p. 660-662 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

    Schneppenheim, R., Ulrich, B., Oyen, F., Angerhaus, D., Aumann, V., Drewke, E., Hassenpflug, W., Häberle, J., Kentouche, K., Kohne, E., Kurnik, K., Müller-Wiefel, D. E., Obser, T., Santer, R. & Sykora, K-W., 2003, In: BLOOD. 101, 5, p. 1845-1850 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. 2002
  6. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

    Odièvre, M. H., Lombès, A., Dessemme, P., Santer, R., Brivet, M., Chevallier, B., Lagardère, B. & Odièvre, M., 2002, In: J INHERIT METAB DIS. 25, 5, p. 379-384 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

    Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., Gennip, V., Albert, H., Baas, F., Santer, R., Santer, R., Becker, K. & Barth, P. G., 2002, In: J PEDIATR-US. 141, 5, p. 729-733 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  8. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

    Santer, R., Steinmann, B. & Schaub, J., 2002, In: CURR MOL MED. 2, 2, p. 213-227 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. Feeding patterns in breast-fed and formula-fed infants.

    Sievers, E., Oldigs, H-D., Santer, R. & Schaub, J., 2002, In: ANN NUTR METAB. 46, 6, p. 243-248 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

    Lässker, U., Zschocke, J., Blau, N. & Santer, R., 2002, In: J INHERIT METAB DIS. 25, 1, p. 65-70 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. 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., 2002, In: HUM GENET. 110, 1, p. 21-29 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. 2001
  13. Hyperinsulinism in syndromal disorders.

    Meissner, T., Rabl, W., Mohnike, K., Scholl, S., Santer, R. & Mayatepek, E., 2001, In: ACTA PAEDIATR. 90, 8, p. 856-859 8.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  14. Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.

    Brendel-Müller, K., Hahn, A., Schneppenheim, R. & Santer, R., 2001, In: PEDIATR NEPHROL. 16, 12, p. 1084-1088 12.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. 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., 2001, In: EUR J HUM GENET. 9, 5, p. 388-391 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  16. 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., 2001, In: HUM GENET. 108, 1, p. 66-71 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. 2000
  18. 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., 08.2000, In: HUM MUTAT. 16, 2, p. 177 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. Hereditary fructose intolerance and alpha(1) antitrypsin deficiency

    Hillebrand, G., Schneppenheim, R., Oldigs, H. D. & Santer, R., 01.07.2000, In: ARCH DIS CHILD. 83, 1, p. 72-3 2 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  20. DiGeorge syndrome with discordant phenotype in monozygotic twins.

    Hillebrand, G., Siebert, R., Simeoni, E. & Santer, R., 2000, In: J MED GENET. 37, 9, p. 23 9.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. 1999
  22. Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.

    Schewior, S., Brand, M. & Santer, R., 1999, In: J PEDIATR GASTR NUTR. 28, 3, p. 353-354 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  23. Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus.

    Jonat, S., Santer, R., Schneppenheim, R., Obser, T. & Eggert, P., 1999, In: ARCH DIS CHILD. 81, 1, p. 57-59 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.

    Eichmann, D., Hufnagel, M., Quick, P. & Santer, R., 1999, In: EUR J PEDIATR. 158, 3, p. 204-206 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection.

    Grefer, J., Santer, R., Ankermann, T., Faul, S., Nölle, B. & Eggert, P., 1999, In: PEDIATR NEPHROL. 13, 4, p. 336-339 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  26. 1998
  27. 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., 06.1998, In: J INHERIT METAB DIS. 21, 3, p. 191-194 4 p., 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. 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., 1998, In: EUR J PEDIATR. 157, 10, p. 783-797 10.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  29. Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.

    Hufnagel, M., Eichmann, D., Stieh, J. & Santer, R., 1998, In: J CLIN ENDOCR METAB. 83, 6, p. 2215-2216 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  30. 1997
  31. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

    Tanaka, K., Gregersen, N., Ribes, A., Kim, J., Kølvraa, S., Winter, V., Eiberg, H., Martinez, G., Deufel, T., Leifert, B., Santer, R., François, B., Pronicka, E., László, A., Kmoch, S., Kremensky, I., Kalaydjicva, L., Ozalp, I. & Ito, M., 1997, In: PEDIATR RES. 41, 2, p. 201-209 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

    Müller, D., Santer, R., Krawinkel, M., Christiansen, B. & Schaub, J., 1997, In: J INHERIT METAB DIS. 20, 4, p. 607-608 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  33. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

    Santer, R., Schneppenheim, R., Dombrowski, A., Götze, H., Steinmann, B. & Schaub, J., 1997, In: NAT GENET. 17, 3, p. 324-326 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  34. 1996
  35. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

    Wiebusch, H., Funke, H., Santer, R., Richter, W. & Assmann, G., 1996, In: HUM MUTAT. 8, 4, p. 392 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.

    Santer, R., Sievers, E. & Schaub, J., 1996, In: ACTA PAEDIATR. 85, 8, p. 902-905 8.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  37. Williams-Beuren syndrome and celiac disease.

    Santer, R., Pankau, R., Schaub, J. & Bürgin-Wolff, A., 1996, In: J PEDIATR GASTR NUTR. 23, 3, p. 339-340 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. 1995
  39. Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.

    Santer, R., Claass, A., Krawinkel, M., Schaub, J. & Ruitenbeek, W., 1995, In: J INHERIT METAB DIS. 18, 1, p. 75-76 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. Discordance for hyperinsulinemic hypoglycemia in monozygotic twins.

    Santer, R., Hoffmann, H., Suttorp, M., Simeoni, E. & Schaub, J., 1995, In: J PEDIATR-US. 126, 6, p. 1017 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.

    Santer, R., Gregersen, N., Tanaka, K., Hinck-Kneip, C., Krawinkel, M. & Schaub, J., 1995, In: EUR J PEDIATR. 154, 6, p. 497 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  42. 1994
  43. Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.

    Krawinkel, M. B., Oldigs, H. D., Santer, R., Lehnert, W., Wendel, U. & Schaub, J., 1994, In: J INHERIT METAB DIS. 17, 5, p. 636-637 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

    Bennett, M. J., Ragni, M. C., Ostfeld, R. J., Santer, R. & Schmidt-Sommerfeld, E., 1994, In: ANN CLIN BIOCHEM. 31, 1, p. 72-77 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  45. Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.

    Krawinkel, M. B., Santer, R. & Oldigs, H. D., 1994, In: J PEDIATR GASTR NUTR. 19, 4, p. 476-477 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  46. 1993
  47. Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Bennett, M. J., Santer, R. & Stanley, C. A., 1993, In: J PEDIATR-US. 122(5 Pt 1), p. 708-714

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  48. Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

    Santer, R., Claviez, A., Oldigs, H. D., Schaub, J., Schutgens, R. B. & Wanders, R. J., 1993, In: EUR J PEDIATR. 152, 4, p. 339-342 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  49. Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.

    Santer, R., Borlinghaus, P., Sievers, E., Segura, E. & Lamerz, R., 1993, In: ACTA PAEDIATR. 82, 12, p. 1024-1028 12.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. [Williams-Beuren syndrome in combination with celiac disease]

    Pankau, R., Partsch, C. J., Gosch, A. & Santer, R., 1993, In: MONATSSCHR KINDERH. 141, 7, p. 577-580 7.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  51. 1992
  52. Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Rinaldo, P., Bennett, M. J., Santer, R. & Stanley, C. A., 1992, In: Prog Clin Biol Res. 375, p. 355-362

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  53. 1991
  54. [Brain abnormality within the scope of a VACTERL association]

    Nikischin, W., Krolikowski, I. & Santer, R., 1991, In: MONATSSCHR KINDERH. 139, 6, p. 360-362 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  55. Celiac disease in Down's syndrome.

    Santer, R., Sievers, E. & Oldigs, H. D., 1991, In: J PEDIATR GASTR NUTR. 13, 1, p. 121 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  56. Computed tomography in superior mesenteric artery syndrome.

    Santer, R., Young, C., Rossi, T. & Riddlesberger, M. M., 1991, In: PEDIATR RADIOL. 21, 2, p. 154-155 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  57. Kinetics of the multi-step catalytic degradation of a polymer to its constituent subunits.

    Leung, Y. K., Wong, L. K., Santer, R., Alliet, P. & Lee, P. C., 1991, In: Comput Biomed Res. 24, 3, p. 209-221 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  58. 1990
  59. [Cystic fibrosis and celiac disease. Report of two cases]

    Santer, R. & Harms, H. K., 1990, In: MONATSSCHR KINDERH. 138, 9, p. 623-626 9.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  60. Effect of thyroxine on the maturation of cholecystokinin (CCK) receptors in pancreatic acini of neonatal rats.

    Leung, Y. K., Srimaruta, N., Santer, R., Lee, P. C. & Lebenthal, E., 1990, In: PANCREAS. 5, 2, p. 210-215 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  61. Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.

    Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E. & Lebenthal, E., 1990, In: EUR J PEDIATR. 150, 2, p. 111-114 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  62. The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: alteration of binding data by specific lectins.

    Santer, R., Leung, Y. K., Alliet, P., Lebenthal, E. & Lee, P. C., 1990, In: BBA-BIOMEMBRANES. 1051, 1, p. 78-83 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  63. 1989
  64. Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.

    Alliet, P., Lu, R. B., Madrazo de La Garza, J. A., Santer, R., Lebenthal, E. & Lee, P. C., 1989, In: J STEROID BIOCHEM. 33, 6, p. 1097-1102 6.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  65. 1987
  66. [Rectum and bladder duplication with malformations of the VACTERL association]

    Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-121 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review