Prof. Dr. ID: 71389
Rene Santer
Publications
- 1987
[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 journal › SCORING: Journal article › Research › peer-review
Rektum- und Blasenduplikatur mit Fehlbildungen der VACTERL-Assoziation
Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-21 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 1989
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 journal › SCORING: Journal article › Research › peer-review
- 1990
[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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1991
[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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1992
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. 355-362Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 1993
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. 708-714Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
[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 journal › SCORING: Journal article › Research › peer-review
- 1994
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1995
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1996
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1997
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1998
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 1999
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 2000
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 2001
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 2002
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
- 2003
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer, R., Hillebrand, G., Steinmann, B. & Schaub, J., 2003, In: GASTROENTEROLOGY. 124, 1, p. 34-39 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review