Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2011

  2. Follow-up survey of children who received sulfadoxine-pyrimethamine for intermittent preventive antimalarial treatment in infants

    Kobbe, R., Hogan, B., Adjei, S., Klein, P., Kreuels, B., Loag, W., Adjei, O. & May, J., 15.02.2011, In: J INFECT DIS. 203, 4, p. 556-60 5 p.

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

  3. Large and ongoing outbreak of haemolytic uraemic syndrome, Germany, May 2011

    Frank, C., Faber, M. S., Askar, M., Bernard, H., Fruth, A., Gilsdorf, A., Hohle, M., Karch, H., Krause, G., Prager, R., Spode, A., Stark, K., Werber, D., HUS investigation team & Oh, J., 01.01.2011, In: EUROSURVEILLANCE. 16, 21

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

  4. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

    Marschner, K., Kollmann, K., Schweizer, M., Braulke, T. & Pohl, S., 2011, In: SCIENCE. 333, 6038, p. 87-90 6038.

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

  5. Aktuelle Ergebnisse notfallmedizinischer Forschung 2010/2011

    Hinkelbein, J., Singer, D., Thiele, H., Meixensberger, J. & Böttiger, BW., 2011, In: Notfallmed up2date. 6, 4, p. 337-352 4.

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

  6. Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.

    Lebrun, A-H., Moll-Khasrawi, P., Pohl, S., Makrypidi, G., Storch, S., Kilian, D., Streichert, T., Otto, B., Mole, S. E., Ullrich, K., Cotman, S., Kohlschütter, A., Braulke, T. & Schulz, A., 2011, In: MOL MED. 17, 11-12, p. 1253-1261 11-12.

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

  7. A novel xenogeneic co-culture system to examine neuronal differentiation capability of various adult human stem cells

    Petschnik, A. E., Fell, B., Tiede, S., Habermann, J. K., Pries, R., Kruse, C. & Danner, S., 2011, In: PLOS ONE. 6, 9, p. e24944

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

  8. Childhood leukodystrophies: a clinical perspective.

    Kohlschütter, A. & Eichler, F., 2011, In: EXPERT REV NEUROTHER. 11, 10, p. 1485-1496 10.

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

  9. Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature.

    Marquard, J., Tarik, E. S., Klee, D., Schmitt, M., Meissner, T., Mayatepek, E. & Oh, J., 2011, In: EUR J PEDIATR. 170, 2, p. 241-245 2.

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

  10. CLN2

    Chang, M., Cooper, J. D., Davidson, B. L., van Diggelen, O., Elleder, M., Goebel, H. H., Golabek, A. A., Kida, E., Kohlschütter, A., Lobel, P., Mole, S. E., Schulz, A., Sleat, D. E., Warburton, M. & Wisniewski, K. E., 2011, The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, 30 p.

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

  11. Desperately seeking diarrhoea: outbreak of haemolytic uraemic syndrome caused by emerging sorbitol-fermenting shiga toxin-producing Escherichia coli O157:H-, Germany, 2009.

    Nielsen, S., Frank, C., Fruth, A., Spode, A., Prager, R., Graff, A., Plenge-Bönig, A., Loos, S., Lütgehetmann, M., Kemper, M. J., Müller-Wiefel, D. E. & Werber, D., 2011, In: ZOONOSES PUBLIC HLTH. 58, 8, p. 567-572 8.

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

  12. Diagnosis and management of glutaric aciduria type I--revised recommendations.

    Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Angels, G. C., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2011, In: J INHERIT METAB DIS. 34, 3, p. 677-694 3.

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

  13. 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

  14. Early-childhood membranous nephropathy due to cationic bovine serum albumin.

    Debiec, H., Lefeu, F., Kemper, M. J., Niaudet, P., Deschênes, G., Remuzzi, G., Ulinski, T. & Ronco, P., 2011, In: NEW ENGL J MED. 364, 22, p. 2101-2110 22.

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

  15. Ectopic craniopharyngioma.

    Kordes, U., Flitsch, J., Hagel, C., Goebell, E., Schwarz, R., Herberhold, T., von Bueren, A., Rutkowski, S. & Müller, H. L., 2011, In: KLIN PADIATR. 223, 3, p. 176-177 3.

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

  16. Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.

    Hoppe, B., Groothoff, J. W., Hulton, S-A., Cochat, P., Niaudet, P., Kemper, M. J., Deschênes, G., Unwin, R. & Milliner, D., 2011, In: NEPHROL DIAL TRANSPL. 26, 11, p. 3609-3615 11.

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

  17. Epidemic profile of Shiga-toxin-producing Escherichia coli O104:H4 outbreak in Germany.

    Frank, C., Werber, D., Cramer, J., Askar, M., Faber, M., Matthias, A. D. H., Bernard, H., Fruth, A., Prager, R., Spode, A., Wadl, M., Zoufaly, A., Jordan, S., Kemper, M. J., Follin, P., Müller, L., King, L. A., Rosner, B., Buchholz, U., Stark, K., Krause, G. & Team, HUS. I., 2011, In: NEW ENGL J MED. 365, 19, p. 1771-1780 19.

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

  18. Estrogen receptor alpha expression in podocytes mediates protection against apoptosis in-vitro and in-vivo.

    Kummer, S., Jeruschke, S., Wegerich, L. V., Peters, A., Lehmann, P., Seibt, A., Müller, F., Koleganova, N., Halbenz, E., Schmitt, C. P., Bettendorf, M., Mayatepek, E., Gross-Weissmann, M-L. & Oh, J., 2011, In: PLOS ONE. 6, 11, p. 27457 11.

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

  19. Evaluating experimental treatment of leukodystrophies.

    Kohlschütter, A., 2011, In: DEV MED CHILD NEUROL. 53, 9, p. 781 9.

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

  20. 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

  21. Functional roles of Ca(v)1.3, Ca(v)3.1 and HCN channels in automaticity of mouse atrioventricular cells: insights into the atrioventricular pacemaker mechanism.

    Marger, L., Mesirca, P., Alig, J., Torrente, A., Dubel, S., Engeland, B., Kanani, S., Fontanaud, P., Striessnig, J., Shin, H-S., Isbrandt, D., Ehmke, H., Nargeot, J. & Mangoni, M. E., 2011, In: CHANNELS. 5, 3, p. 251-261 3.

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

  22. Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

    Lamp, J., Keyser, B., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 2011, In: J BIOL CHEM. 286, 20, p. 17777-17784 20.

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

  23. High prevalence of renal dysfunction in children after liver transplantation: non-invasive diagnosis using a cystatin C-based equation.

    Brinkert, F., Kemper, M. J., Briem-Richter, A., Van Husen, M., Treszl, A. & Ganschow, R., 2011, In: NEPHROL DIAL TRANSPL. 26, 4, p. 1407-1412 4.

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

  24. Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors.

    Harps, E., Brinkert, F., Ganschow, R., Briem-Richter, A., Van Husen, M., Schmidtke, S., Herden, U., Nashan, B., Fischer, L. & Kemper, M. J., 2011, In: TRANSPLANTATION. 91, 10, p. 1127-1131 10.

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

  25. 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

  26. 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

  27. Neural cell adhesion molecule ablation in mice causes hippocampal dysplasia and loss of septal cholinergic neurons.

    Tereshchenko, Y., Morellini, F., Dityatev, A., Schachner, M. & Irintchev, A., 2011, In: J COMP NEUROL. 519, 12, p. 2475-2492 12.

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

  28. New therapies in steroid-sensitive and steroid-resistant idiopathic nephrotic syndrome.

    Van Husen, M. & Kemper, M. J., 2011, In: PEDIATR NEPHROL. 26, 6, p. 881-892 6.

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

  29. N-glycans and glycosylphosphatidylinositol-anchor act on polarized sorting of mouse PrP(C) in Madin-Darby canine kidney cells.

    Puig Martorell, B., Altmeppen, H. C., Thurm, D. K., Geissen, M., Conrad, C., Braulke, T. & Glatzel, M., 2011, In: PLOS ONE. 6, 9, p. 24624 9.

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

  30. Open-source genomic analysis of Shiga-toxin-producing E. coli O104:H4.

    Rohde, H., Qin, J., Cui, Y., Li, D., Loman, N. J., Hentschke, M., Chen, W., Pu, F., Peng, Y., Li, J., Xi, F., Li, S., Li, Y., Zhang, Z., Yang, X., Zhao, M., Wang, P., Guan, Y., Cen, Z., Zhao, X., Christner, M., Kobbe, R., Loos, S., Oh, J., Yang, L., Danchin, A., Gao, G. F., Song, Y., Li, Y., Yang, H., Wang, J., Xu, J., Pallen, M. J., Wang, J., Aepfelbacher, M., Yang, R. & Consortium, E. C. OH. G. A. C-S., 2011, In: NEW ENGL J MED. 365, 8, p. 718-724 8.

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

  31. Pacemaker activity and ionic currents in mouse atrioventricular node cells.

    Marger, L., Mesirca, P., Alig, J., Torrente, A., Dubel, S., Engeland, B., Kanani, S., Fontanaud, P., Striessnig, J., Shin, H-S., Isbrandt, D., Ehmke, H., Nargeot, J. & Mangoni, M. E., 2011, In: CHANNELS. 5, 3, p. 241-250 3.

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

  32. Pathogenesis, diagnosis and management of hyperkalemia.

    Lehnhardt, A. & Kemper, M. J., 2011, In: PEDIATR NEPHROL. 26, 3, p. 377-384 3.

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

  33. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

    Rivera, I., Mendes, D., Afonso, Â., Barroso, M., Ramos, R., Janeiro, P., Oliveira, A., Gaspar, A. & Tavares de Almeida, I., 2011, In: MOL GENET METAB. 104 Suppl, p. S86-92

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

  34. Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.

    Encarnação, M., Kollmann, K., Trusch, M., Braulke, T. & Pohl, S., 2011, In: J BIOL CHEM. 286, 7, p. 5311-5318 7.

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

  35. Spermidine promotes human hair growth and is a novel modulator of human epithelial stem cell functions

    Ramot, Y., Tiede, S., Bíró, T., Abu Bakar, M. H., Sugawara, K., Philpott, M. P., Harrison, W., Pietilä, M. & Paus, R., 2011, In: PLOS ONE. 6, 7, p. e22564

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

  36. Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

    Kędzierska, K., Kwiatkowski, S., Torbé, A., Marchelek-Myśliwiec, M., Marcinkiewicz, O., Bobrek-Lesiakowska, K., Gołembiewska, E., Kwiatkowska, E., Rzepka, R., Ciechanowski, K., Czajka, R. & Santer, R., 2011, In: AM J MED GENET A. 155A, 8, p. 2028-2030 8.

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

  37. Suction catheter tip as an endobronchial foreign body.

    Blohm, M., Vezyroglou, K., Riedel, F., Roth, B. & Singer, D., 2011, In: INTENS CARE MED. 37, 12, p. 2052-2053 12.

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

  38. Surgical aspects and outcome of combined liver and kidney transplantation in children.

    Herden, U., Kemper, M. J., Ganschow, R., Klaassen, I., Grabhorn, E., Brinkert, F., Nashan, B. & Fischer, L., 2011, In: TRANSPL INT. 24, 8, p. 805-811 8.

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

  39. Susceptibility to the long-term anxiogenic effects of an acute stressor is mediated by the activation of the glucocorticoid receptors.

    Jakovcevski, M., Schachner, M. & Morellini, F., 2011, In: NEUROPHARMACOLOGY. 61, 8, p. 1297-1305 8.

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

  40. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

    Reuser, A. J., Verheijen, F. W., Bali, D., Diggelen, V., Otto, P., Germain, D. P., Lukacs, Z., Lukacs, Z., Mühl, A., Olivova, P., Piraud, M., Wuyts, B., Zhang, K. & Keutzer, J., 2011, In: MOL GENET METAB. 104, 1-2, p. 144-148 1-2.

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

  41. The use of everolimus in pediatric liver transplant recipients: first experience in a single center.

    Nielsen, D., Briem-Richter, A., Sornsakrin, M., Fischer, L., Nashan, B. & Ganschow, R., 2011, In: PEDIATR TRANSPLANT. 15, 5, p. 510-514 5.

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

  42. Up to date knowledge on different treatment strategies for phenylketonuria

    Bélanger-Quintana, A., Burlina, A., Harding, C. O. & Muntau, A. C., 2011, In: MOL GENET METAB. 104 Suppl, p. S19-25

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

  43. 2010

  44. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

    Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D., Parini, R., Hunter Outcome Survey Investigators & Muschol, N. M., 01.12.2010, In: GENET MED. 12, 12, p. 816-22 7 p.

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

  45. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

    Muntau, A. C. & Gersting, S. W., 12.2010, In: J INHERIT METAB DIS. 33, 6, p. 649-58 10 p.

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

  46. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

    Lagler, F. B., Gersting, S. W., Zsifkovits, C., Steinbacher, A., Eichinger, A., Danecka, M. K., Staudigl, M., Fingerhut, R., Glossmann, H. & Muntau, A. C., 15.11.2010, In: BIOCHEM PHARMACOL. 80, 10, p. 1563-71 9 p.

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

  47. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

    Thiele, H., du Moulin, M., Barczyk, K., George, C., Schwindt, W., Nürnberg, G., Frosch, M., Kurlemann, G., Roth, J., Nürnberg, P. & Rutsch, F., 11.2010, In: HUM MUTAT. 31, 11, p. E1836-50

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

  48. Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor

    Gersting, S. W., Staudigl, M., Truger, M. S., Messing, D. D., Danecka, M. K., Sommerhoff, C. P., Kemter, K. F. & Muntau, A. C., 01.10.2010, In: J BIOL CHEM. 285, 40, p. 30686-97 12 p.

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

  49. Endocrine controls of primary adult human stem cell biology: thyroid hormones stimulate keratin 15 expression, apoptosis, and differentiation in human hair follicle epithelial stem cells in situ and in vitro

    Tiede, S., Bohm, K., Meier, N., Funk, W. & Paus, R., 10.2010, In: EUR J CELL BIOL. 89, 10, p. 769-77 9 p.

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

  50. Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations

    Breuer, C., Oh, J., Molderings, G-J., Schemann, M., Kuch, B., Mayatepek, E. & Adam, R., 14.09.2010, In: WORLD J GASTROENTERO. 16, 34, p. 4363-4366 4 p.

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

  51. Parallel assessment of prolonged neonatal distress by empathy-based and item-based scales

    Garten, L., Deindl, P., Schmalisch, G., Metze, B. & Bührer, C., 01.09.2010, In: EUR J PAIN. 14, 8, p. 878-81 4 p.

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

  52. Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature

    Breuer, C., Paul, H., Zimmermann, A., Braunstein, S., Schaper, J., Mayatepek, E. & Oh, J., 01.08.2010, In: EUR J PEDIATR. 169, 8, p. 1037-40 4 p.

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

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