Prof. Dr. ID: 71389
Rene Santer
Publications
- SCORING: Journal article › Research › Peer-reviewed
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A., Nuoffer, J-M., Parini, R., Read, M-H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. & Salomons, G. S., 04.04.2013, In: AM J HUM GENET. 92, 4, p. 627-31 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs, Z., Paulina, N. C., Mengel, E., Hartung, R., Beck, M., Deschauer, M., Keil, A. & Santer, R., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
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
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
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
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
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
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
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
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
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. 1511-1520Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
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. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
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
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
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
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
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
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
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
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. 100314Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
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
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
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
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
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
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
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
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
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
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. E728Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 1007-1018Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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