Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2014

  2. Outcome of liver re-transplantation in children-Impact and special analysis of early re-transplantation

    Herden, U., Ganschow, R., Grabhorn, E., Briem-Richter, A., Nashan, B. & Fischer, L., 01.06.2014, In: PEDIATR TRANSPLANT. 18, 4, p. 377-84 8 p.

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

  3. Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production

    Roth, S., Rottach, A., Lotz-Havla, A. S., Laux, V., Muschaweckh, A., Gersting, S. W., Muntau, A. C., Hopfner, K-P., Jin, L., Vanness, K., Petrini, J. H. J., Drexler, I., Leonhardt, H. & Ruland, J., 01.06.2014, In: NAT IMMUNOL. 15, 6, p. 538-45 8 p.

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

  4. Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression

    Barroso, M., Florindo, C., Kalwa, H., Silva, Z., Turanov, A. A., Carlson, B. A., de Almeida, I. T., Blom, H. J., Gladyshev, V. N., Hatfield, D. L., Michel, T., Castro, R., Loscalzo, J. & Handy, D. E., 30.05.2014, In: J BIOL CHEM. 289, 22, p. 15350-62 13 p.

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

  5. 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

  6. Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

    Damme, M., Brandenstein, L., Fehr, S., Jankowiak, W., Bartsch, U., Schweizer, M., Hermans-Borgmeyer, I. & Storch, S., 01.05.2014, In: NEUROBIOL DIS. 65, p. 12-24 13 p.

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

  7. Genotype-phenotype associations in WT1 glomerulopathy

    Lipska, B. S., Ranchin, B., Iatropoulos, P., Gellermann, J., Melk, A., Ozaltin, F., Caridi, G., Seeman, T., Tory, K., Jankauskiene, A., Zurowska, A., Szczepanska, M., Wasilewska, A., Harambat, J., Trautmann, A., Peco-Antic, A., Borzecka, H., Moczulska, A., Saeed, B., Bogdanovic, R., Kalyoncu, M., Simkova, E., Erdogan, O., Vrljicak, K., Teixeira, A., Azocar, M., Schaefer, F. & PodoNet Consortium, 01.05.2014, In: KIDNEY INT. 85, 5, p. 1169-78 10 p.

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

  8. Protection of human podocytes from shiga toxin 2-induced phosphorylation of mitogen-activated protein kinases and apoptosis by human serum amyloid P component

    Dettmar, A. K., Binder, E., Greiner, F. R., Liebau, M. C., Kurschat, C. E., Jungraithmayr, T. C., Saleem, M. A., Schmitt, C-P., Feifel, E., Orth-Höller, D., Kemper, M. J., Pepys, M., Würzner, R. & Oh, J., 01.05.2014, In: INFECT IMMUN. 82, 5, p. 1872-9 8 p.

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

  9. Organtransplantation bei Patienten mit primärer Hyperoxalurie

    Brinkert, F. & Kemper, M. J., 11.04.2014, In: NEPHROLOGE. 9, p. 222-227

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

  10. 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

  11. 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

  12. Effect of cerebral circulatory arrest on cerebral near-infrared spectroscopy in pediatric patients

    Blohm, M. E., Obrecht, D., Hartwich, J. & Singer, D., 01.04.2014, In: PEDIATR ANESTH. 24, 4, p. 393-9 7 p.

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

  13. 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

  14. Lysine glutarylation is a protein posttranslational modification regulated by SIRT5

    Tan, M., Peng, C., Anderson, K. A., Chhoy, P., Xie, Z., Dai, L., Park, J., Chen, Y., Huang, H., Zhang, Y., Ro, J., Wagner, G. R., Green, M. F., Madsen, A. S., Schmiesing, J., Peterson, B. S., Xu, G., Ilkayeva, O. R., Muehlbauer, M. J., Braulke, T., Mühlhausen, C., Backos, D. S., Olsen, C. A., McGuire, P. J., Pletcher, S. D., Lombard, D. B., Hirschey, M. D. & Zhao, Y., 01.04.2014, In: CELL METAB. 19, 4, p. 605-17 13 p.

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

  15. Neonatale Erstversorgung - "Atypische Intubation" bei Trachealagenesie

    Wolf, M., Klaassen, I., Reinshagen, K., Herrmann, J. & Singer, D., 01.04.2014, In: Z GEBURTSH NEONATOL. 218, 2, p. 87-8 2 p.

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

  16. Renal osteodystrophy in children: pathogenesis, diagnosis and treatment

    Kemper, M. J. & Van Husen, M., 01.04.2014, In: CURR OPIN PEDIATR. 26, 2, p. 180-186 7 p.

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

  17. Neurological involvement in children with E. coli O104:H4-induced hemolytic uremic syndrome

    Bauer, A., Loos, S., Wehrmann, C., Horstmann, D., Donnerstag, F., Lemke, J., Hillebrand, G., Löbel, U., Pape, L., Haffner, D., Bindt, C., Ahlenstiel, T., Melk, A., Lehnhardt, A., Kemper, M. J., Oh, J. & Hartmann, H., 25.03.2014, In: PEDIATR NEPHROL. 29, 9, p. 1607-1615

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

  18. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

    Lampe, C., Bosserhoff, A-K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., 05.03.2014, In: J INHERIT METAB DIS. 37, 5, p. 823-829

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

  19. 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

  20. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

    De Pace, R., Coutinho, M. F., Nolte, F., Haag, F., Prata, M. J., Alves, S., Braulke, T. & Pohl, S., 01.03.2014, In: HUM MUTAT. 35, 3, p. 368-76 9 p.

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

  21. Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life

    Gramer, G., Haege, G., Glahn, E. M., Hoffmann, G. F., Lindner, M. & Burgard, P., 03.2014, In: J INHERIT METAB DIS. 37, 2, p. 189-95 7 p.

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

  22. High vaccination rate is crucial

    Blohm, M. & Klinkenberg, D., 28.02.2014, In: DTSCH ARZTEBL INT. 111, 9, p. 150

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

  23. 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

  24. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

    Kehrer, C., Groeschel, S., Kustermann-Kuhn, B., Bürger, F., Köhler, W., Kohlschütter, A., Bley, A., Steinfeld, R., Gieselmann, V., Krägeloh-Mann, I. & German LEUKONET, 05.02.2014, In: ORPHANET J RARE DIS. 9, p. 18

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

  25. Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients

    Gramer, G., Weber, B. H. F. & Gramer, E., 13.01.2014, In: INVEST OPHTH VIS SCI. 55, 1, p. 259-64 6 p.

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

  26. An anorexic girl with severe peripheral vasospasm

    Breuer, C., Fisch-Kohl, C., Kemper, M. J., Debus, E. S. & Atlihan, G., 01.01.2014, In: J PEDIATR-US. 164, 1, p. 201-2 2 p.

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

  27. Cardiac arrhythmia induced by genetic silencing of 'funny' (f) channels is rescued by GIRK4 inactivation

    Mesirca, P., Alig, J., Torrente, A. G., Müller, J. C., Marger, L., Rollin, A., Marquilly, C., Vincent, A., Dubel, S., Bidaud, I., Fernandez, A., Seniuk, A., Engeland, B., Singh, J., Miquerol, L., Ehmke, H., Eschenhagen, T., Nargeot, J., Wickman, K., Isbrandt, D. & Mangoni, M. E., 01.01.2014, In: NAT COMMUN. 5, p. 4664

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

  28. 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

  29. Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins

    Schmiesing, J., Schlüter, H., Ullrich, K., Braulke, T. & Mühlhausen, C., 01.01.2014, In: PLOS ONE. 9, 2, p. e87715

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

  30. Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping

    Schoennagel, B. P., Remus, C. C., Wedegärtner, U., Salzmann, I., Grabhorn, E., Adam, G., Fischer, R., Harmatz, P., Kooijman, H. & Yamamura, J., 01.01.2014, In: MAGN RESON MED. 13, 3, p. 167-173 7 p.

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

  31. The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase

    Jank, J. M., Maier, E. M., Reiβ, D. D., Haslbeck, M., Kemter, K. F., Truger, M. S., Sommerhoff, C. P., Ferdinandusse, S., Wanders, R. J., Gersting, S. W. & Muntau, A. C., 01.01.2014, In: PLOS ONE. 9, 4, p. e93852

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

  32. Alterations in the Ubiquitin Proteasome System in Persistent but Not Reversible Proteinuric Diseases

    Beeken, M., Lindenmeyer, M. T., Blattner, S. M., Radón, V., Oh, J., Meyer, T. N., Hildebrand, D., Schlüter, H., Reinicke-Vogt, A., Knop, J-H., Vivekanandan-Giri, A., Münster, S., Sachs, M., Wiech, T., Pennathur, S., Cohen, C. D., Kretzler, M., Stahl, R. A. K. & Meyer-Schwesinger, C., 2014, In: J AM SOC NEPHROL. 25, 11, p. 2511-25

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

  33. Ambient-und Biomonitoring nach Quecksilberintoxikation

    Budnik, L. T., Hermann, K., Preisser, A. M., Nordholt, G., Harth, V. & Mühlhausen, C., 2014, Deutsche Gesellschaft für Arbeitsmedizin und Umweltmedizin e.V.: Wissenschaftliche Jahrestagung 2014 in Dresden 02.04.-04.04.2014 Dokumentation der 54. Jahrestagung der DGAUM. . 1 ed. ecomed Medizin, Verlagsgruppe Hüthig Jehle Rehm GmbH, Vol. 54. p. 76 1 p.

    Research output: SCORING: Contribution to book/anthology › Conference contribution - Article for conference › Research › peer-review

  34. Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen

    Muntau, A. C., 2014, Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt, D., Nicolai, T. & Zimmer, K-P. (eds.). 9 ed. Berlin Heidelberg: Springer, p. 117-132 16 p.

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

  35. Co-incident BK and Epstein-Barr virus replication in a 3-year-old immunocompetent boy

    Breuer, C., Hinsch, A., Hiort, J., Oh, J., Hirsch, H. H. & Dalquen, P., 2014, In: CLIN NEPHROL. 82, 4, p. 278-282

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

  36. Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?

    Ganos, C., Biskup, S., Krüger, S., Meyer-Osores, A., Hodecker, S., Hagel, C., Schöls, L., Bhatia, K. P. & Münchau, A., 2014, In: PARKINSONISM RELAT D. 20, 3, p. 328-31 4 p.

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

  37. Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)

    Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206

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

  38. Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

    Leuders, S., Wolfgart, E., Ott, T., du Moulin, M., van Teeffelen-Heithoff, A., Vogelpohl, L., Och, U., Marquardt, T., Weglage, J., Feldmann, R. & Rutsch, F., 2014, In: JIMD reports. 13, p. 101-9 9 p.

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

  39. Sexualfunktionen, Schwangerschaft und Geburt

    Rieger, L., Kämmerer, U. & Singer, D., 2014, Physiologie. Pape, H-C., A. K. & S. S. (eds.). 7 ed. Stuttgart: Georg Thieme Verlag KG, p. 635-670 36 p.

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

  40. Therapie des hämolytisch-urämischen Syndroms

    Lemke, J., Kemper, M. J. & Loos, S., 2014, In: Päd Praxis. 83, 1, p. 103-111

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

  41. Wärmehaushalt und Temperaturregulation

    Gekle, M. & Singer, D., 2014, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 7 ed. Stuttgart: Georg Thieme Verlag KG, p. 566-584 19 p.

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

  42. 2013

  43. Abatacept in B7-1-positive proteinuric kidney disease

    Yu, C-C., Fornoni, A., Weins, A., Hakroush, S., Maiguel, D., Sageshima, J., Chen, L., Ciancio, G., Faridi, M. H., Behr, D., Campbell, K. N., Chang, J-M., Chen, H-C., Oh, J., Faul, C., Arnaout, M. A., Fiorina, P., Gupta, V., Greka, A., Burke, G. W. & Mundel, P., 19.12.2013, In: NEW ENGL J MED. 369, 25, p. 2416-23 8 p.

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

  44. A formula to calculate the standard liver volume in children and its application in pediatric liver transplantation

    Herden, U., Wischhusen, F., Heinemann, A., Ganschow, R., Grabhorn, E., Vettorazzi, E., Nashan, B. & Fischer, L., 01.12.2013, In: TRANSPL INT. 26, 12, p. 1217-24 8 p.

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

  45. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

    Khundadze, M., Kollmann, K., Koch, N., Biskup, C., Nietzsche, S., Zimmer, G., Hennings, J. C., Huebner, A. K., Symmank, J., Jahic, A., Ilina, E. I., Karle, K., Schöls, L., Kessels, M., Braulke, T., Qualmann, B., Kurth, I., Beetz, C. & Hübner, C. A., 01.12.2013, In: PLOS GENET. 9, 12, p. e1003988 16 p.

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

  46. Aktuelle Ergebnisse notfallmedizinischer Forschung 2012/2013

    Hinkelbein, J., Braunecker, S., Singer, D., Thiele, H. & Böttiger, B. W., 01.12.2013, In: Notfallmed up2date. 8, p. 317-335

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

  47. Concomitant bilateral adnexal entanglement in a 7-year-old girl with precocious puberty

    Boettcher, M., Kanellos-Becker, I., Akkurt, I. & Reinshagen, K., 01.12.2013, In: INT J GYNECOL OBSTET. 123, 3, p. 248-9 2 p.

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

  48. 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

  49. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes

    Cleary, M., Trefz, F., Muntau, A. C., Feillet, F., van Spronsen, F. J., Burlina, A., Bélanger-Quintana, A., Giżewska, M., Gasteyger, C., Bettiol, E., Blau, N. & MacDonald, A., 01.12.2013, In: MOL GENET METAB. 110, 4, p. 418-23 6 p.

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

  50. Peripheral blood biomarkers for the characterization of alloimmune reactivity after pediatric liver transplantation

    Briem-Richter, A., Leuschner, A., Krieger, T., Grabhorn, E., Fischer, L., Nashan, B., Haag, F. & Ganschow, R., 01.12.2013, In: PEDIATR TRANSPLANT. 17, 8, p. 757-64 8 p.

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

  51. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

    Kollmann, K., Uusi-Rauva, K., Scifo, E., Tyynelä, J., Jalanko, A. & Braulke, T., 01.11.2013, In: BBA-MOL BASIS DIS. 1832, 11, p. 1866-81 16 p.

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

  52. Cognitive performance in pediatric liver transplant recipients

    Kaller, T., Langguth, N., Petermann, F., Ganschow, R., Nashan, B. & Schulz, K-H., 01.11.2013, In: AM J TRANSPLANT. 13, 11, p. 2956-65 10 p.

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

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