Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

graph of relations
Affiliations
1 - 50 out of 201Page size: 50

Publications

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

    Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.

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

  7. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

    Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.

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

  8. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.

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

  9. 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

  10. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

    Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.

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

  11. 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

  12. 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

  13. 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

  14. 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

  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. 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

  17. 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

  18. Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.

    Buchert, R., Santer, R., Brenner, W., Apostolova, I., Mester, J., Clausen, M. & Silverman, D. H. S., 2009, In: NUKLEARMED-NUCL MED. 48, 1, p. 44-54 1.

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

  19. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

    Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J. & Santer, R., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3874-3879 12.

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

  20. 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

  21. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Sivia, D. G., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., Rizzo, C., Piemonte, F., Rodenburg, R., Santer, R., Santorelli, F. M., van Rooij, A., Diana, V. K., Morava, E. & Wevers, R. A., 2007, In: BRAIN. 130, 3, p. 862-874 3.

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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.

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

  29. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

    Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.

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

  30. 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

  31. 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

  32. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

    Engel, K., Nuoffer, J-M., Mühlhausen, C., Klaus, V., Largiadèr, C. R., Tsiakas, K. K., Santer, R., Wermuth, B. & Häberle, J., 2008, In: MOL GENET METAB. 94, 3, p. 292-297 3.

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

  33. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

    Ensenauer, R., Vockley, J., Willard, J-M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H-G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., 2004, In: AM J HUM GENET. 75, 6, p. 1136-1142 6.

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

  34. 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

  35. 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

  36. 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

  37. 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

  38. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

    Furlan, F., Santer, R., Vismara, E., Santus, F., Sersale, G., Menni, F. & Parini, R., 2006, In: J INHERIT METAB DIS. 29, 5, p. 685 5.

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

  39. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

    Gordon, M. M., Brada, N., Remacha, A., Badell, I., Elisabeth, D. R., Baiget, M., Santer, R., Quadros, E. V., Rothenberg, S. P. & Alpers, D. H., 2004, In: HUM MUTAT. 23, 1, p. 85-91 1.

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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

    Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.

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

  49. 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

  50. 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

Previous 1 2 3 4 5 Next