Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2009

  2. Early clinical experiences with the new influenza A (H1N1/09)

    Winzer, R., Kanig, N., Schneitler, S., Reuter, S., Jensen, B., Müller-Stöver, I., Oh, J., Adams, O., Mayatepek, E., Hengel, H., Schneitler, H. & Häussinger, D., 11.2009, In: DTSCH ARZTEBL INT. 106, 47, p. 770-6 7 p.

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

  3. Exploring the role of stem cells in cutaneous wound healing

    Lau, K., Paus, R., Tiede, S., Day, P. & Bayat, A., 11.2009, In: EXP DERMATOL. 18, 11, p. 921-33 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  4. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations

    Eichler, F., Grodd, W., Grant, E., Sessa, M., Biffi, A., Bley, A., Kohlschütter, A., Loes, D. J. & Kraegeloh-Mann, I., 11.2009, In: AM J NEURORADIOL. 30, 10, p. 1893-1897 5 p., 10.

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

  5. Nestin in human Skin: exclusive expression in intramesenchymal skin compartments and regulation by leptin

    Tiede, S., Kloepper, J. E., Ernst, N., Poeggeler, B., Kruse, C. & Paus, R., 11.2009, In: J INVEST DERMATOL. 129, 11, p. 2711-20 10 p.

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

  6. Nonviral in situ green fluorescent protein labeling and culture of primary, adult human hair follicle epithelial progenitor cells

    Tiede, S., Koop, N., Kloepper, J. E., Fässler, R. & Paus, R., 11.2009, In: Stem cells (Dayton, Ohio). 27, 11, p. 2793-803 11 p.

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

  7. Efficacy and safety of intermittent preventive treatment with sulfadoxine-pyrimethamine for malaria in African infants: a pooled analysis of six randomised, placebo-controlled trials

    Aponte, J. J., Schellenberg, D., Egan, A., Breckenridge, A., Carneiro, I., Critchley, J., Danquah, I., Dodoo, A., Kobbe, R., Lell, B., May, J., Premji, Z., Sanz, S., Sevene, E., Soulaymani-Becheikh, R., Winstanley, P., Adjei, S., Anemana, S., Chandramohan, D., Issifou, S., Mockenhaupt, F., Owusu-Agyei, S., Greenwood, B., Grobusch, M. P., Kremsner, P. G., Macete, E., Mshinda, H., Newman, R. D., Slutsker, L., Tanner, M., Alonso, P. & Menendez, C., 31.10.2009, In: LANCET. 374, 9700, p. 1533-42 10 p.

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

  8. Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control

    Lindner, M., Gramer, G., Garbade, S. F. & Burgard, P., 08.2009, In: J INHERIT METAB DIS. 32, 4, p. 514-22 9 p.

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

  9. Human hair follicle epithelium has an antimicrobial defence system that includes the inducible antimicrobial peptide psoriasin (S100A7) and RNase 7

    Reithmayer, K., Meyer, K. C., Kleditzsch, P., Tiede, S., Uppalapati, S. K., Gläser, R., Harder, J., Schröder, J-M. & Paus, R., 07.2009, In: BRIT J DERMATOL. 161, 1, p. 78-89 12 p.

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

  10. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

    Maier, E. M., Gersting, S. W., Kemter, K. F., Jank, J. M., Reindl, M., Messing, D. D., Truger, M. S., Sommerhoff, C. P. & Muntau, A. C., 01.05.2009, In: HUM MOL GENET. 18, 9, p. 1612-23 12 p.

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

  11. Endocrine controls of keratin expression

    Ramot, Y., Paus, R., Tiede, S. & Zlotogorski, A., 04.2009, In: BIOESSAYS. 31, 4, p. 389-99 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  12. Kidney transplantation in patients with Fabry disease

    Cybulla, M., Walter, K. N., Schwarting, A., Divito, R., Feriozzi, S., Sunder-Plassmann, G. & European FOS Investigators Group, 04.2009, In: TRANSPL INT. 22, 4, p. 475-481 7 p., 4.

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

  13. Uberbringen schlechter Nachrichten--Videogestützte Trainingseinheit für Medizinstudenten

    Kopecky-Wenzel, M., Maier, E. M., Muntau, A. C., Reinhardt, D. & Frank, R., 03.2009, In: Z KINDER JUG-PSYCH. 37, 2, p. 139-44 6 p.

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

  14. Basic fibroblast growth factor: a potential new therapeutic tool for the treatment of hypertrophic and keloid scars

    Tiede, S., Ernst, N., Bayat, A., Paus, R., Tronnier, V. & Zechel, C., 01.2009, In: ANN ANAT. 191, 1, p. 33-44 12 p.

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

  15. Abetalipoproteinemia

    Kohlschütter, A., 2009, Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London, p. 666-666 1 p.

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

  16. Abnormal myelination in Angelman syndrome.

    Harting, I., Seitz, A., Rating, D., Sartor, K., Zschocke, J., Janssen, B., Ebinger, F. & Wolf, N. I., 2009, In: EUR J PAEDIATR NEURO. 13, 3, p. 271-276 3.

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

  17. Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.

    Eberl, W., Budde, U., Bentele, K. H. P., Christen, H-J., Knapp, R., Mey, A. & Schneppenheim, R., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 137-142 2.

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

  18. AGC1 deficiency and cerebral hypomyelination.

    Wolf, N. I., Knaap, V. D. & Marjo, S., 2009, In: NEW ENGL J MED. 361, 20, p. 1997-1998 20.

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

  19. Aktuelle Ergebnisse notfallmedizinischer Forschung.

    Spöhr, F., Bernhard, M., Meixensberger, J., Singer, D., Thiele, H. & Böttiger, BW., 2009, In: Notfallmed up2date. 4, p. 345-359

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

  20. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

    Taanman, J-W., Rahman, S., Pagnamenta, A. T., Morris, A. A. M., Bitner-Glindzicz, M., Wolf, N. I., Leonard, J. V., Clayton, P. T. & Schapira, A. H. V., 2009, In: HUM MUTAT. 30, 2, p. 248-254 2.

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

  21. Ataxia due to vitamin E deficiency

    Kohlschütter, A., 2009, Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London, p. 165-166 2 p.

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

  22. B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.

    Sornsakrin, M., Wenner, K. & Ganschow, R., 2009, In: EUR J PEDIATR. 168, 7, p. 825-831 7.

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

  23. Biologika in der Therapie des nephrotischen Syndroms.(Biologicals in the treatment of childhood nephrotic syndrome)

    Dötsch, J., Müller-Wiefel, D. E. & Kemper, M. J., 2009, In: MONATSSCHR KINDERH. 157, 3, p. 247-253 3.

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

  24. Characterization of the transcriptional regulation of the human MT1-MMP gene and association of risk reduction for focal-segmental glomerulosclerosis with two functional promoter SNPs.

    Munkert, A., Helmchen, U., Kemper, M. J., Bubenheim, M., Stahl, R. A. K. & Harendza, S., 2009, In: NEPHROL DIAL TRANSPL. 24, 3, p. 735-742 3.

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

  25. Chronic mucocutaneous candidiasis may cause elevated gliadin antibodies.

    Brinkert, F., Sornsakrin, M., Krebs-Schmitt, D. & Ganschow, R., 2009, In: ACTA PAEDIATR.

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

  26. Comparison of three clinical rating scales in Friedreich ataxia (FRDA).

    Bürk, K., Mälzig, U., Wolf, S., Heck, S., Dimitriadis, K., Schmitz-Hübsch, T., Hering, S., Lindig, T. M., Haug, V., Timmann, D., Degen, I., Kruse, B., Dörr, J-M., Ratzka, S., Ivo, A., Schöls, L., Boesch, S., Klockgether, T., Klopstock, T. & Schulz, J. B., 2009, In: MOVEMENT DISORD.

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

  27. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

    Pohl, S., Tiede, S., Castrichini, M., Cantz, M., Gieselmann, V. & Braulke, T., 2009, In: BBA-MOL BASIS DIS. 1792, 3, p. 221-225 3.

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

  28. 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

  29. Control of heart rate by cAMP sensitivity of HCN channels.

    Alig, J., Marger, L., Mesirca, P., Ehmke, H., Mangoni, M. E. & Isbrandt, D., 2009, In: P NATL ACAD SCI USA. 106, 29, p. 12189-12194 29.

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

  30. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

    Lukacs, Z., Paulina, N. C., Mengel, E., Hartung, R., Beck, M., Deschauer, M., Keil, A. & Santer, R., 2009, In: J INHERIT METAB DIS.

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

  31. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

    Harting, I., Neumaier-Probst, E., Seitz, A., Maier, E. M., Assmann, B., Baric, I., Troncoso, M., Mühlhausen, C., Zschocke, J., Boy, N. P. S., Hoffmann, G. F., Garbade Sven, F. & Kölker, S., 2009, In: BRAIN. 132, 7, p. 1764-1782 7.

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

  32. Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children

    Morava, E., Steuerwald, U., Carrozzo, R., Kluijtmans, LA., Joensen, F., Santer, R., Dionisi-Vici, C. & Wevers, RA., 2009, In: MITOCHONDRION. 9, 6, p. 438-442 6.

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

  33. Effectiveness of Rex shunt in children with portal hypertension following liver transplantation or with primary portal hypertension.

    Krebs-Schmitt, D., Briem-Richter, A., Grabhorn, E., Burdelski, M., Helmke, K., Broering, D. C. & Ganschow, R., 2009, In: PEDIATR TRANSPLANT.

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

  34. Epilepsy and inborn errors of metabolism in children.

    Wolf, N. I., García-Cazorla, A. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 609-617 5.

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

  35. Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.

    Pohl, S., Marschner, K., Storch, S. & Braulke, T., 2009, In: BIOL CHEM. 390, 7, p. 521-527 7.

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

  36. Home-based exercise training as maintenance after outpatient pulmonary rehabilitation

    du Moulin, M., Taube, K., Wegscheider, K., Behnke, M. & van den Bussche, H., 2009, In: RESPIRATION. 77, 2, p. 139-45 7 p.

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

  37. Inborn errors of metabolism and motor disturbances in children.

    García-Cazorla, A., Wolf, N. I., Serrano, M., Pérez-Dueñas, B., Pineda, M., Campistol, J., Fernández-Alvarez, E., Colomer, J., DiMauro, S. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 618-629 5.

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

  38. Lysosomes.

    Gieselmann, V. & Braulke, T., 2009, In: BBA-MOL CELL RES. 1793, 4, p. 603-604 4.

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

  39. 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

  40. Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.

    Klein, D., Yaghootfam, A., Matzner, U., Koch, B., Braulke, T. & Gieselmann, V., 2009, In: BIOL CHEM. 390, 1, p. 41-48 1.

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

  41. Mannose phosphorylation in health and disease.

    Kollmann, K., Pohl, S., Marschner, K., Encarnação, M., Sakwa, I., Stephan, T., Poorthuis, B. J., Lübke, T., Müller-Loennies, S., Storch, S. & Braulke, T., 2009, In: EUR J CELL BIOL.

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

  42. Mental retardation and inborn errors of metabolism.

    García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 597-608 5.

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

  43. Metachromatische Leukodystrophie (MLD)

    Kohlschütter, A., 2009, Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München, p. 102-104 3 p.

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

  44. Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging.

    Ding, X., Sun, Y., Kruse, B., Illies, T., Zeumer, H., Fiehler, J. & Lanfermann, H., 2009, In: EUR RADIOL. 19, 6, p. 1537-1543 6.

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

  45. Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).

    Scherber, E., Beutel, K., Ganschow, R., Schulz, A., Janka-Schaub, G. & Zur Stadt, U., 2009, In: CLIN GENET.

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

  46. Neurometabolic disorders and epilepsy

    Kohlschütter, A. & Plecko, B., 2009, Advanced Therapy in Epilepsy. BC Decker Inc, p. 92-98 7 p.

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

  47. Neuronal ceroid lipofuscinoses.

    Jalanko, A. & Braulke, T., 2009, In: BBA-MOL CELL RES. 1793, 4, p. 697-709 4.

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

  48. Neuronale Ceroid-Lipofuszinosen

    Kohlschütter, A., 2009, Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München, p. 104-107 4 p.

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

  49. Outcome of severe unilateral cerebellar hypoplasia.

    Poretti, A., Limperopoulos, C., Roulet-Perez, E., Wolf, N. I., Rauscher, C., Prayer, D., Müller, A., Weissert, M., Kotzaeridou, U., Plessis, DU., Adre, J., Huisman, T. A. G. M. & Boltshauser, E., 2009, In: DEV MED CHILD NEUROL.

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

  50. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

    Kohlschütter, B., Ellerbrok, M., Merkel, M., Tchirikov, M., Zschocke, J., Santer, R. & Ullrich, K., 2009, In: J INHERIT METAB DIS.

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

  51. Prevalence of polyomavirus viruria (JC virus/BK virus) in children following liver transplantation.

    Brinkert, F., Briem-Richter, A., Ilchmann, C., Kemper, M. J. & Ganschow, R., 2009, In: PEDIATR TRANSPLANT.

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

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