Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2007

  2. Human dermis-derived cells demonstrate strong features of controlled mesodermal differentiation

    Tiede, S., Danner, S., Tronnier, V., Paus, R. & Zechel, C., 2007, In: J STEM CELLS REGEN. 2, 1, p. 137-8 2 p.

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

  3. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

    Pohl, S., Mitchison, H. M., Kohlschütter, A., van Diggelen, O., Braulke, T. & Storch, S., 2007, In: J NEUROCHEM. 103, 6, p. 2177-2188 6.

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

  4. In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.

    Heerschap, A., Kan, H. E., Nabuurs, C. I. H. C., Renema, W. K., Isbrandt, D. & Wieringa, B., 2007, In: Subcell Biochem. 46, p. 119-148

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

  5. [Leukodystrophies: diseases of white matter of the nervous system]

    Gärtner, J., Kohlschütter, A. & Gieselmann, V., 2007, In: BUNDESGESUNDHEITSBLA. 50, 12, p. 1531-1540 12.

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

  6. Liver transplantation in children with progressive familial intrahepatic cholestasis.

    Englert, C., Grabhorn, E., Briem-Richter, A., Rogiers, X., Burdelski, M. & Ganschow, R., 2007, In: TRANSPLANTATION. 84, 10, p. 1361-1363 10.

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

  7. [Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]

    Lücke, T., Korenke, G. C., Poggenburg, I., Bentele, K. H. P., Das, A. M. & Hartmann, H., 2007, In: Z GEBURTSH NEONATOL. 211, 4, p. 157-161 4.

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

  8. Obesity and other clinical endpoints in steroid-sensitive nephrotic syndrome.

    Neuhaus, T. J., Rüth, E-M. & Kemper, M. J., 2007, In: PEDIATR NEPHROL. 22, 3, p. 472-473 3.

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

  9. Perinatal adaptation in mammals: the impact of metabolic rate.

    Singer, D. & Mühlfeld, C., 2007, In: COMP BIOCHEM PHYS A. 148, 4, p. 780-784 4.

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

  10. Peritonitis in children who receive long-term peritoneal dialysis: a prospective evaluation of therapeutic guidelines.

    Warady, B. A., Feneberg, R., Verrina, E., Flynn, J. T., Müller-Wiefel, D. E., Besbas, N., Zurowska, A., Aksu, N., Fischbach, M., Sojo, E., Donmez, O., Sever, L., Sirin, A., Alexander, S. R. & Schaefer, F., 2007, In: J AM SOC NEPHROL. 18, 7, p. 2172-2179 7.

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

  11. Pneumococcal conjugate vaccine provides early protective antibody responses in children after related and unrelated allogeneic hematopoietic stem cell transplantation.

    Meisel, R., Kuypers, L., Dirksen, U., Schubert, R., Gruhn, B., Strauss, G., Beutel, K., Groll, A. H., Duffner, U., Blütters-Sawatzki, R., Holter, W., Feuchtinger, T., Grüttner, H-P., Schroten, H., Zielen, S., Ohmann, C., Laws, H-J. & Dilloo, D., 2007, In: BLOOD. 109, 6, p. 2322-2326 6.

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

  12. Prognosis of antenatally diagnosed oligohydramnios of renal origin.

    Kemper, M. J. & Müller-Wiefel, D. E., 2007, In: EUR J PEDIATR. 166, 5, p. 393-398 5.

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

  13. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

    Meyer, A., Kossow, K., Gal, A., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 2007, In: PEDIATRICS. 120, 5, p. 1255-1261 5.

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

  14. Selective late steroid withdrawal after renal transplantation.

    Laube, G. F., Falger, J., Kemper, M. J., Zingg-Schenk, A. & Neuhaus, T. J., 2007, In: PEDIATR NEPHROL. 22, 11, p. 1947-1952 11.

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

  15. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.

    Görg, M., Wilck, W., Granitzny, B., Suerken, A., Lukacs, Z., Ding, X., Schulte-Markwort, M. & Kohlschütter, A., 2007, In: J CHILD NEUROL. 22, 9, p. 1139-1142 9.

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

  16. 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

  17. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

    Heine, C., Quitsch, A., Storch, S., Martin, Y., Lonka, L., Lehesjoki, A-E., Mole, S. E. & Braulke, T., 2007, In: MOL MEMBR BIOL. 24, 1, p. 74-87 1.

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

  18. Use of monoclonal antibodies to assess expression of anaphylatoxin receptors in tubular epithelial cells of human, murine and rat kidneys

    Kiafard, Z., Tschernig, T., Schweyer, S., Bley, A., Neumann, D. & Zwirner, J., 2007, In: IMMUNOBIOLOGY. 212, 2, p. 129-39 11 p.

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

  19. [Why 37 degrees C? Evolutionary fundamentals of thermoregulation]

    Singer, D., 2007, In: ANAESTHESIST. 56, 9, p. 899-902, 904-906 9.

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

  20. Worldwide variation of dialysis-associated peritonitis in children.

    Schaefer, F., Feneberg, R., Aksu, N., Donmez, O., Sadikoglu, B., Alexander, S. R., Mir, S., Ha, I. S., Fischbach, M., Simkova, E., Watson, A. R., Möller, K., von Baum, H. & Warady, B. A., 2007, In: KIDNEY INT. 72, 11, p. 1374-1379 11.

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

  21. 2006

  22. Lhx2--decisive role in epithelial stem cell maintenance, or just the "tip of the iceberg"?

    Tiede, S. & Paus, R., 12.2006, In: BIOESSAYS. 28, 12, p. 1157-60 4 p.

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

  23. Towards the development of a pragmatic technique for isolating and differentiating nestin-positive cells from human scalp skin into neuronal and glial cell populations: generating neurons from human skin?

    Kruse, C., Bodó, E., Petschnik, A. E., Danner, S., Tiede, S. & Paus, R., 10.2006, In: EXP DERMATOL. 15, 10, p. 794-800 7 p.

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

  24. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG

    Tiede, S., Cantz, M., Spranger, J. & Braulke, T., 08.2006, In: HUM MUTAT. 27, 8, p. 830-1 2 p.

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

  25. Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding

    Hoffmann, B., Schwahn, B., Knobbe, C. B., Vogel, M., Blohm, M., Mayatepek, E. & Wendel, U., 06.2006, In: NEUROPEDIATRICS. 37, 3, p. 163-5 3 p.

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

  26. In vitro sulfation of N-acetyllactosaminide by soluble recombinant human beta-Gal-3'-sulfotransferase

    Greimel, P., Jabs, S., Storch, S., Cherif, S., Honke, K., Braulke, T. & Thiem, J., 22.05.2006, In: CARBOHYD RES. 341, 7, p. 918-24 7 p.

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

  27. Seasonal variation and high multiplicity of first Plasmodium falciparum infections in children from a holoendemic area in Ghana, West Africa

    Kobbe, R., Neuhoff, R., Marks, F., Adjei, S., Langefeld, I., von Reden, C., Adjei, O., Meyer, C. G. & May, J., 01.05.2006, In: TROP MED INT HEALTH. 11, 5, p. 613-9 7 p.

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

  28. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

    Sauer, S. W., Okun, J. G., Fricker, G., Mahringer, A., Müller, I., Crnic, L. R., Mühlhausen, C., Hoffmann, G. F., Hörster, F., Goodman, S. I., Harding, C. O., Koeller, D. M. & Kölker, S., 05.2006, In: J NEUROCHEM. 97, 3, p. 899-910 12 p.

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

  29. Presynaptic, activity-dependent modulation of cannabinoid type 1 receptor-mediated inhibition of GABA release

    Földy, C., Neu, A., Jones, M. V. & Soltesz, I., 01.02.2006, In: J NEUROSCI. 26, 5, p. 1465-9 5 p.

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

  30. Blood-brain barrier permeability to the neuroprotectant oxyresveratrol

    Breuer, C., Wolf, G., Andrabi, S. A., Lorenz, P. & Horn, T. F. W., 30.01.2006, In: NEUROSCI LETT. 393, 2-3, p. 113-8 6 p.

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

  31. A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.

    Williams, E. L., Kemper, M. J. & Rumsby, G., 2006, In: AM J KIDNEY DIS. 48, 3, p. 481-483 3.

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

  32. A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

    Neubauer, B. A., Stefanova, I., Hübner, C., Neumaier-Probst, E., Bohl, J., Oppermann, H. C., Stö, H., Hahn, A., Stephani, U., Kohlschütter, A. & Gal, A., 2006, In: NEUROLOGY. 67, 4, p. 587-591 4.

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

  33. 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

  34. Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1.

    Nissel, R., Latta, K., Gagnadoux, M-F., Kelly, D., Hulton, S., Kemper, M. J., Ruder, H., Söderdahl, G., Otte, J. B., Cochat, P., Roquet, O., Jamieson, N. V. & Haffner, D., 2006, In: TRANSPLANTATION. 82, 1, p. 48-54 1.

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

  35. C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.

    Choe, C-U., Schulze-Bahr, E., Neu, A., Xu, J., Zhu, Z. I., Sauter, K., Bähring, R., Priori, S., Guicheney, P., Mönnig, G., Neapolitano, C., Heidemann, J., Clancy, C. E., Pongs, O. & Isbrandt, D., 2006, In: HUM MOL GENET. 15, 19, p. 2888-2902 19.

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

  36. Diagnosis of the neuronal ceroid lipofuscinoses: an update.

    Williams, R. E., Aberg, L., Autti, T., Goebel, H. H., Kohlschütter, A. & Lönnqvist, T., 2006, In: BBA-BIOMEMBRANES. 1762, 10, p. 865-872 10.

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

  37. Diaphragmatic hernia resulting in enterothorax following pediatric liver transplantation: a rare complication.

    Englert, C., Helmke, K., Briem-Richter, A., Beckmann, M., Rogiers, X., Burdelski, M. & Ganschow, R., 2006, In: TRANSPLANTATION. 82, 4, p. 574-576 4.

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

  38. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

    Hartwig, C., Gal, A., Santer, R., Ullrich, K., Finckh, U. & Kreienkamp, H-J., 2006, In: FEBS LETT. 580, 14, p. 3489-3492 14.

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

  39. Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.

    Mühlhausen, C., Ott, N., Chalajour, F., Tilki, D., Freudenberg, F., Shahhossini, M., Thiem, J., Ullrich, K., Braulke, T. & Ergün, S., 2006, In: PEDIATR RES. 59, 2, p. 196-202 2.

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

  40. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

    Lukacs, Z. & Santer, R., 2006, In: MOL NUTR FOOD RES. 50, 4-5, p. 443-450 4-5.

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

  41. 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

  42. High prevalence of febrile urinary tract infections after paediatric renal transplantation.

    John, U., Everding, A. S., Kuwertz-Bröking, E., Bulla, M., Müller-Wiefel, D. E., Misselwitz, J. & Kemper, M. J., 2006, In: NEPHROL DIAL TRANSPL. 21, 11, p. 3269-3274 11.

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

  43. Hyperuricemia and gout following pediatric renal transplantation.

    Spartà, G., Kemper, M. J. & Neuhaus, T. J., 2006, In: PEDIATR NEPHROL. 21, 12, p. 1884-1888 12.

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

  44. Liver transplantation in children with Alagille syndrome: indications and outcome.

    Englert, C., Grabhorn, E., Burdelski, M. & Ganschow, R., 2006, In: PEDIATR TRANSPLANT. 10, 2, p. 154-158 2.

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

  45. Long-term evaluation of cyclosporine and tacrolimus based immunosuppression in pediatric liver transplantation.

    Hasenbein, W., Albani, J., Englert, C., Spehr, A., Grabhorn, E., Kemper, M. J., Burdelski, M. & Ganschow, R., 2006, In: PEDIATR TRANSPLANT. 10, 8, p. 938-942 8.

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

  46. [Long-term outcome of preterm neonates: the message behind the statistics]

    Singer, D., 2006, In: Z GEBURTSH NEONATOL. 210, 2, p. 50-59 2.

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

  47. Neonatal hemochromatosis: long-term experience with favorable outcome.

    Grabhorn, E., Briem-Richter, A., Burdelski, M., Rogiers, X. & Ganschow, R., 2006, In: PEDIATRICS. 118, 5, p. 2060-2065 5.

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

  48. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

    Stadler, S. C., Polanetz, R., Maier, E. M., Heidenreich, S. C., Niederer, B., Mayerhofer, P. U., Lagler, F., Koch, H-G., Santer, R., Fletcher, J. M., Ranieri, E., Das, A. M., Spiekerkötter, U., Schwab, K. O., Pötzsch, S., Marquardt, I., Hennermann, J. B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A. C., Roscher, A. A. & Röschinger, W., 2006, In: HUM MUTAT. 27, 8, p. 748-759 8.

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

  49. [Obstructive nephropathy]

    Ringert, R-H., Riedmiller, H., Rübben, H., Rose, A., Hoyer, P. F., Conrad, S., Hoang-Böhm, J. & Müller-Wiefel, D. E., 2006, In: UROLOGE. 45, 4, p. 225-228 4.

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

  50. Percutaneous endoscopic gastrostomy in children on peritoneal dialysis.

    von Schnakenburg, C., Feneberg, R., Plank, C., Zimmering, M., Arbeiter, K., Bald, M., Fehrenbach, H., Griebel, M., Licht, C., Konrad, M., Timmermann, K. & Kemper, M. J., 2006, In: PERITON DIALYSIS INT. 26, 1, p. 69-77 1.

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

  51. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

    Horvath, R., Hudson, G., Ferrari, G., Fütterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmüller, H., McFarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M. & Chinnery, P. F., 2006, In: BRAIN. 129, 7, p. 1674-1684 7.

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

  52. Tacrolimus-induced cholestatic syndrome following pediatric liver transplantation and steroid-resistant graft rejection.

    Ganschow, R., Albani, J., Grabhorn, E., Briem-Richter, A. & Burdelski, M., 2006, In: PEDIATR TRANSPLANT. 10, 2, p. 220-224 2.

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

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