Prof. Dr. ID: 71389
Rene Santer
Publications
- SCORING: Journal article › Research › Peer-reviewed
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. 102517Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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. 1083-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Märtner, E. M. C., Maier, E. M., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Santer, R., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer-Seifert, J., Lenz, D., Hoffmann, G. F., Mühlhausen, C., Ensenauer, R., Garbade, S. F., Kölker, S. & Boy, N., 05.2021, In: J INHERIT METAB DIS. 44, 3, p. 629-638 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Grohmann-Held, K., Burgard, P., Baerwald, C. G. O., Beblo, S., Vom Dahl, S., Das, A., Dokoupil, K., Fleissner, S., Freisinger, P., Heddrich-Ellerbrok, M., Jung, A., Korpel, V., Krämer, J., Lier, D., Maier, E. M., Meyer, U., Mühlhausen, C., Newger, M., Och, U., Plöckinger, U., Rosenbaum-Fabian, S., Rutsch, F., Santer, R., Schick, P., Schwarz, M., Spiekerkötter, U., Strittmatter, U., Thiele, A. G., Ziagaki, A., Mütze, U., Gleich, F., Garbade, S. F. & Kölker, S., 11.2022, In: J INHERIT METAB DIS. 45, 6, p. 1070-1081 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y-H., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E., Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 03.2023, In: J INHERIT METAB DIS. 46, 2, p. 220-231 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari, G., Lamantea, E., Donati, A., Filosto, M., Briem, E., Carrara, F., Parini, R., Simonati, A., Santer, R. & Zeviani, M., 2005, In: BRAIN. 128, 4, p. 723-731 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Kuseyri Hübschmann, O., Juliá-Palacios, N. A., Olivella, M., Guder, P., Zafeiriou, D. I., Horvath, G., Kulhánek, J., Pearson, T. S., Kuster, A., Cortès-Saladelafont, E., Ibáñez, S., García-Jiménez, M. C., Honzík, T., Santer, R., Jeltsch, K., Garbade, S. F., Hoffmann, G. F., Opladen, T. & García-Cazorla, Á., 08.2022, In: ANN NEUROL. 92, 2, p. 292-303 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli, B. K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A. L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F. M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J. A., Prokisch, H. & Wortmann, S. B., 31.08.2022, In: NUTRIENTS. 14, 17, 3605.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
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
Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.
Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung
Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
Heidepriem, J., Dahlke, C., Kobbe, R., Santer, R., Koch, T., Fathi, A., Seco, B. M. S., Ly, M. L., Schmiedel, S., Schwinge, D., Serna, S., Sellrie, K., Reichardt, N. C., Seeberger, P. H., Addo, M. M., Loeffler, F. F. & ID-UKE COVID-19 study group, 06.04.2021, In: PATHOGENS. 10, 4, 438.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcome of renal glucosuria type 0: the original patient and his natural history.
Scholl-Bürgi, S., Santer, R. & Ehrich, J. H. H., 2004, In: NEPHROL DIAL TRANSPL. 19, 9, p. 2394-2396 9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
Grabhorn, E., Tsiakas, K., Herden, U., Fischer, L., Freisinger, P., Marquardt, T., Ganschow, R., Briem-Richter, A. & Santer, R., 01.04.2014, In: LIVER TRANSPLANT. 20, 4, p. 464-72 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A. & Santer, R., 08.07.2017, In: MITOCHONDRION.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2
Coady, M. J., El Tarazi, A., Santer, R., Bissonnette, P., Sasseville, L. J., Calado, J., Lussier, Y., Dumayne, C., Bichet, D. G. & Lapointe, J-Y., 01.2017, In: J AM SOC NEPHROL. 28, 1, p. 85-93Research 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
Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.
Martin-Subero, J. I., Bibikova, M., Mackay, D., Wickham-Garcia, E., Sellami, N., Richter, J., Santer, R., Caliebe, A., Fan, J-B., Temple, I. K. & Siebert, R., 2008, In: AM J MED GENET A. 146, 24, p. 3227-3229 24.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
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
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.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
Mutation analysis in 54 propionic acidemia patients.
Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 51-63 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296Research 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
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
Fortugno, P., Josselin, E., Tsiakas, K., Agolini, E., Cestra, G., Teson, M., Santer, R., Castiglia, D., Novelli, G., Dallapiccola, B., Kurth, I., Lopez, M., Zambruno, G. & Brancati, F., 27.02.2014, In: J INVEST DERMATOL. 134, 8, p. 2146-2153Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-760 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.
Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-766 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl, T., Tsiakas, K., Mühlhausen, C., Santer, R., C, W., Dr. von der Wense, A. & Singer, D., 12.2014, In: Z GEBURTSH NEONATOL. 218, 06, p. 269-270Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
Murko, S., Aseman, A. D., Reinhardt, F., Gramer, G., Okun, J. G., Mütze, U. & Santer, R., 01.2023, In: JIMD reports. 64, 1, p. 114-120 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nephrolithiasis in a child with glucose-galactose malabsorption.
Tasic, V., Slaveska, N., Blau, N. & Santer, R., 2004, In: PEDIATR NEPHROL. 19, 2, p. 244-246 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Mütze, U., Ottenberger, A., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Vom Dahl, S., Weinhold, N., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T., Behne, R., Haas, D., Spiekerkoetter, U., Hoffmann, G. F., Garbade, S. F., Grünert, S. C. & Kölker, S., 04.2024, In: ANN CLIN TRANSL NEUR. 11, 4, p. 883-898 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.
Claviez, A., Horst, H-A., Santer, R. & Suttorp, M., 2003, In: ANN HEMATOL. 82, 4, p. 251-253 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze, U., Henze, L., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Blessing, H., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, T., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Keller, M., Walter, M., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 857-870 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler, S. C., Polanetz, R., Maier, E. M., Heidenreich, S. C., Niederer, B., Mayerhofer, P. U., Lagler, F., Koch, H-G., Santer, R., Fletcher, J. M., Ranieri, E., Das, A. M., Spiekerkötter, U., Schwab, K. O., Pötzsch, S., Marquardt, I., Hennermann, J. B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A. C., Roscher, A. A. & Röschinger, W., 2006, In: HUM MUTAT. 27, 8, p. 748-759 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 540-548 9 p.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
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi, L., Zurflüh, M. R., Schuler, A., Ponzone, A., Porta, F., Fiori, L., Giovannini, M., Santer, R., Hoffmann, G. F., Ibel, H., Wendel, U., Ballhausen, D., Baumgartner, M. R. & Blau, N., 2008, In: MOL GENET METAB. 93, 3, p. 295-305 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review