Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

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Affiliations
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Publications

  1. 2018

  2. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

    Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.

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

  3. 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

  4. 2017

  5. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

    Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., De Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J-M., Polic, B., Santer, R., Weinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 13.12.2017, In: J INHERIT METAB DIS.

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

  6. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

    Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., 12.2017, In: ANN NEUROL. 82, 6, p. 1004-1015 12 p.

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

  7. The first case of domino-split-liver transplantation in maple syrup urine disease

    Herden, U., Li, J., Fischer, L., Brinkert, F., Blohm, M., Santer, R., Nashan, B. & Grabhorn, E., 09.2017, In: PEDIATR TRANSPLANT. 21, 6

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

  8. 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

  9. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.

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

  10. 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

  11. 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

  12. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

    Grünert, S. C., Schlatter, S. M., Schmitt, R. N., Gemperle-Britschgi, C., Mrázová, L., Balcı, M. C., Bischof, F., Çoker, M., Das, A. M., Demirkol, M., de Vries, M., Gökçay, G., Häberle, J., Uçar, S. K., Lotz-Havla, A. S., Lücke, T., Roland, D., Rutsch, F., Santer, R., Schlune, A., Staufner, C., Schwab, K. O., Mitchell, G. A. & Sass, J. O., 07.2017, In: MOL GENET METAB. 121, 3, p. 206-215 10 p.

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

  13. 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. 281-296

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

  14. 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. 85-93

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

  15. 2016

  16. 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

  17. 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. 991-1000

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

  18. 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

  19. 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. 1133-40

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

  20. 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

  21. Phenylketonuria: Direct and indirect effects of phenylalanine

    Schlegel, G., Scholz, R., Ullrich, K., Santer, R. & Rune, G. M., 14.04.2016, In: EXP NEUROL. 281, p. 28-36 9 p.

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

  22. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

    Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. & Haack, T. B., 04.02.2016, In: AM J HUM GENET. 98, p. 358-362

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

  23. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

    Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44

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

  24. TMEM165 Deficiency: Postnatal Changes in Glycosylation

    Althoff, S. S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R. & Marquardt, T., 2016, JIMD Reports. 1 ed. Springer, Vol. 26. p. 21-29 9 p. (JIMD Reports; vol. 26).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  25. 2015

  26. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    Park, J. H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A. L., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., Innes, A. M., Hörtnagel, K., Biskup, S., Gleixner, E. M., Kurlemann, G., Fiedler, B., Omran, H., Rutsch, F., Wada, Y., Tsiakas, K., Santer, R., Nebert, D. W., Rust, S. & Marquardt, T., 03.12.2015, In: AM J HUM GENET. 97, 6, p. 894-903 10 p.

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

  27. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

    Klünder, S., Heeren, J., Markmann, S., Santer, R., Braulke, T. & Pohl, S., 08.2015, In: J LIPID RES. 56, 8, p. 1625-32 8 p.

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

  28. A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

    Fazeli, W., Kaczmarek, S., Kirschstein, M. & Santer, R., 28.07.2015, In: BMC GASTROENTEROL. 15, p. Art. 90

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

  29. 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

  30. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation

    Hermann, K., Varwig-Janßen, D., Budnik, L. T., Nordholt, G., Reinshagen, K., Oh, J., Santer, R. & Mühlhausen, C., 04.2015, In: MONATSSCHR KINDERH. 163, 6, p. 570-574

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

  31. 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

  32. 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

  33. 2014

  34. 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. 269-270

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

  35. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho de Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., Mandel, H., Bliksrud, Y. T., Freisinger, P., Aldamiz-Echevarria, L. J., Hochuli, M., Gautschi, M., Endig, J., Jordan, J., McKiernan, P., Ernst, S., Morlot, S., Vogel, A., Sander, J. & Das, A. M., 01.08.2014, In: ORPHANET J RARE DIS. 9, p. 107

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

  36. 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

  37. CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

    Barvencik, F., Kurth, I., Koehne, T., Stauber, T., Zustin, J., Tsiakas, K., Ludwig, C. F., Beil, F. T., Pestka, J-M., Hahn, M., Santer, R., Supanchart, C., Kornak, U., Del Fattore, A., Jentsch, T. J., Teti, A., Schulz, A., Schinke, T. & Amling, M., 01.04.2014, In: J BONE MINER RES. 29, 4, p. 982-91 10 p.

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

  38. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

    Mühlhausen, C., Salomons, G. S., Lukacs, Z., Struys, E. A., van der Knaap, M. S., Ullrich, K. & Santer, R., 01.04.2014, In: J INHERIT METAB DIS. 37, 5, p. 775-781

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

  39. 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

  40. 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

  41. 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. 2146-2153

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

  42. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

    Rüegger, C. M., Lindner, M., Ballhausen, D., Baumgartner, M. R., Beblo, S., Das, A., Gautschi, M., Glahn, E. M., Grünert, S. C., Hennermann, J., Hochuli, M., Huemer, M., Karall, D., Kölker, S., Lachmann, R. H., Lotz-Havla, A., Möslinger, D., Nuoffer, J-M., Plecko, B., Rutsch, F., Santer, R., Spiekerkoetter, U., Staufner, C., Stricker, T., Wijburg, F. A., Williams, M., Burgard, P. & Häberle, J., 01.01.2014, In: J INHERIT METAB DIS. 37, 1, p. 21-30 10 p.

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

  43. 2013

  44. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

    Kollmann, K., Pestka, J-M., Kühn, S. C., Schöne, E., Schweizer, M., Karkmann, K., Otomo, T., Catala-Lehnen, P., Failla, A. V., Marshall, R. P., Krause, M., Santer, R., Amling, M., Braulke, T. & Schinke, T., 01.12.2013, In: EMBO MOL MED. 5, 12, p. 1871-86 16 p.

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

  45. Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

    Afroze, B., Yunus, Z., Steinmann, B. & Santer, R., 01.09.2013, In: EUR J PEDIATR. 172, 9, p. 1249-53 5 p.

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

  46. 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

  47. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Grünert, S. C., 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., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6

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

  48. 2012

  49. 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

  50. 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

  51. Suggested guidelines for the diagnosis and management of urea cycle disorders

    Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32

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

  52. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

    Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W. & Baumgartner, M. R., 2012, In: ORPHANET J RARE DIS. 7, p. 31

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

  53. A child with night blindness: preventing serious symptoms of Refsum disease.

    Kohlschütter, A., Santer, R., Lukacs, Z., Altenburg, C., Kemper, M. J. & Rüther, K., 2012, In: J CHILD NEUROL. 27, 5, p. 654-656 5.

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

  54. 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

  55. 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

  56. Propionic acidemia: neonatal versus selective metabolic screening.

    Grünert, S. C., 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., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 41-49 1.

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

  57. 2011

  58. 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

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