Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

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  1. 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

  2. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism

    Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.

    Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review

  3. Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series

    Dahlke, C., Heidepriem, J., Kobbe, R., Santer, R., Koch, T., Fathi, A., Ly, M. L., Schmiedel, S., Seeberger, P. H., ID-UKE COVID-19 study group, Addo, M. M. & Loeffler, F., 17.04.2020, In: medRxiv.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  4. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

    Cobos, P. N., Steglich, C., Santer, R., Lukacs, Z. & Gal, A., 06.05.2014, In: JIMD reports.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

    Lukacs, Z., Nieves Cobos, P. A., Keil, A., Hartung, R., Mengel, E., Beck, M., Deschauer, M., Hanisch, F. & Santer, R., 2011, In: CLIN BIOCHEM. 44, 7, p. 476 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children

    Morava, E., Steuerwald, U., Carrozzo, R., Kluijtmans, LA., Joensen, F., Santer, R., Dionisi-Vici, C. & Wevers, RA., 2009, In: MITOCHONDRION. 9, 6, p. 438-442 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. 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

  8. Effect of kidney disease on glucose handling (including genetic defects)

    Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  9. 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

  10. Effects of Infantile Hypophosphatasia on Human Dental Tissue

    Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

    Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. B., 08.2022, In: GENET MED. 24, 8, p. 1781-1788 8 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  12. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

    Berry, G. T., Baynes, J. W., Wells-Knecht, K. J., Szwergold, B. S. & Santer, R., 2005, In: MOL GENET METAB. 86, 4, p. 473-477 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

    Hartwig, C., Gal, A., Santer, R., Ullrich, K., Finckh, U. & Kreienkamp, H-J., 2006, In: FEBS LETT. 580, 14, p. 3489-3492 14.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

    Paesold-Burda, P., Baumgartner, M. R., Santer, R., Bosshard, N. U. & Steinmann, B., 2007, In: J INHERIT METAB DIS. 30, 6, p. 896-902 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

    Böhringer, J., Santer, R., Schumacher, N., Gieseke, F., Cornils, K., Pechan, M., Kustermann-Kuhn, B., Handgretinger, R., Schöls, L., Harzer, K., Krägeloh-Mann, I. & Müller, I., 31.07.2017, In: HUM MUTAT. 38, 11, p. 1511-1520

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

    Lukacs, Z. & Santer, R., 2006, In: MOL NUTR FOOD RES. 50, 4-5, p. 443-450 4-5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

    Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

    Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., Smeitink, J. A. M., Morava, E., Kozicz, T., Wevers, R. A., Wolf, N. I. & Willemsen, M. A., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 98-103 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

    Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. 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

  23. 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

  24. Fanconi-Bickel syndrome and fertility.

    von Schnakenburg, C. & Santer, R., 2011, In: AM J MED GENET A. 155A, 10, p. 2607 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

    Grünert, S. C., Schwab, K. O., Pohl, M., Sass, J. O. & Santer, R., 01.03.2012, In: MOL GENET METAB. 105, 3, p. 433-437 5 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. 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

  27. 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

  28. 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

  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 journal › SCORING: Journal article › Research › peer-review

  30. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

    Hoffman, T. L., Blanco, E., Lane, A., Galvin-Parton, P., Gadi, I., Santer, R., DeLeón, D., Stanley, C. & Wilson, T. A., 2007, In: CLIN GENET. 71, 6, p. 551-557 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

    Gramer, G., Wolf, N. I., Vater, D., Bast, T., Santer, R., Kamsteeg, E-J., Wevers, R. A. & Ebinger, F., 01.06.2012, In: NEUROPEDIATRICS. 43, 3, p. 168-171 4 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

    du Moulin, M., Thies, B., Blohm, M., Oh, J., Kemper, M. J., Santer, R. & Mühlhausen, C., 12.07.2017, In: JIMD reports.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Glyceroluria and neonatal hemochromatosis.

    Barić, I., Zibar, K., Ćorić, M., Santer, R., Bonilla, S., Bilić, K., Buljević, A. D., Benjak, V., Fumić, K. & Whitington, P. F., 2012, In: J PEDIATR GASTR NUTR. 55, 4, p. 126-128 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

    Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

    Holsten, T., Tsiakas, K., Kordes, U., Bison, B., Pietsch, T., Rutkowski, S., Santer, R. & Schüller, U., 03.2018, In: CHILD NERV SYST. 34, 3, p. 581-584 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

    Freisinger, P., Fütterer, N., Lankes, E., Gempel, K., Berger, T. M., Spalinger, J., Hoerbe, A., Schwantes, C., Lindner, M., Santer, R., Burdelski, M., Schaefer, H., Setzer, B., Walker, U. A. & Horváth, R., 2006, In: ARCH NEUROL-CHICAGO. 63, 8, p. 1129-1134 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 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

  40. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

    Schilling, A., Mülhausen, C., Lehmann, W., Santer, R., Schinke, T., Rueger, J. M. & Amling, M., 2007, In: OSTEOPOROSIS INT. 18, 5, p. 659-669 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    Schumacher, U., Lukacs, Z., Kaltschmidt, C., Freudlsperger, C., Schulz, D., Kompisch, K., Müller, R., Rudolph, T. K., Santer, R., Lorke, D. & Ullrich, K., 2008, In: NEUROBIOL DIS. 32, 3, p. 385-390 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

    Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, E., Santer, R., Propping, P. & Friedl, W., 2005, In: HUM MUTAT. 26, 6, p. 513-519 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Hip Morphology in Mucolipidosis Type II

    Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. Hippocampal synaptic connectivity in phenylketonuria

    Horling, K., Schlegel, G., Schulz, S., Vierk, R., Ullrich, K., Santer, R. & Rune, G., 15.02.2015, In: HUM MOL GENET. 4, 24, p. 1007-1018

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

    Albers, K., Schlein, C., Wenner, K., Lohse, P., Bartelt, A., Heeren, J., Santer, R. & Merkel, M., 01.03.2014, In: ATHEROSCLEROSIS. 233, 1, p. 97-103 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    Kožich, V., Schwahn, B. C., Sokolová, J., Křížková, M., Ditroi, T., Krijt, J., Khalil, Y., Křížek, T., Vaculíková-Fantlová, T., Stibůrková, B., Mills, P., Clayton, P., Barvíková, K., Blessing, H., Sykut-Cegielska, J., Dionisi-Vici, C., Gasperini, S., García-Cazorla, Á., Haack, T. B., Honzík, T., Ješina, P., Kuster, A., Laugwitz, L., Martinelli, D., Porta, F., Santer, R., Schwarz, G. & Nagy, P., 12.2022, In: REDOX BIOL. 58, p. 102517

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

    Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R. & Barić, I., 01.09.2016, In: J PEDIATR ENDOCR MET. 29, 9, p. 1083-8

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. 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

  50. Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive

    Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

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