Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2006

  2. The CLN9 protein, a regulator of dihydroceramide synthase.

    Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S. & Boustany, R-M. N., 2006, In: J BIOL CHEM. 281, 5, p. 2784-2794 5.

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

  3. [The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]

    Rüther, K., Gal, A. & Kohlschütter, A., 2006, In: KLIN MONATSBL AUGENH. 223, 6, p. 542-544 6.

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

  4. Transplantation of infant en bloc kidneys into paediatric recipients.

    Laube, G. F., Kellenberger, C. J., Kemper, M. J., Weber, M. & Neuhaus, T. J., 2006, In: PEDIATR NEPHROL. 21, 3, p. 408-412 3.

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

  5. 2005

  6. Role of Pex19p in the targeting of PMP70 to peroxisome

    Kashiwayama, Y., Asahina, K., Shibata, H., Morita, M., Muntau, A. C., Roscher, A. A., Wanders, R. J. A., Shimozawa, N., Sakaguchi, M., Kato, H. & Imanaka, T., 15.12.2005, In: Biochim Biophys Acta. 1746, 2, p. 116-28 13 p.

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

  7. Parasitological rebound effect and emergence of pyrimethamine resistance in Plasmodium falciparum after single-dose sulfadoxine-pyrimethamine

    Marks, F., von Kalckreuth, V., Kobbe, R., Adjei, S., Adjei, O., Horstmann, R. D., Meyer, C. G. & May, J., 01.12.2005, In: J INFECT DIS. 192, 11, p. 1962-5 4 p.

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

  8. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

    Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A. & Braulke, T., 01.10.2005, In: NAT MED. 11, 10, p. 1109-12 4 p.

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

  9. Psychosocial rehabilitation and satisfaction with life in adults with childhood-onset of end-stage renal disease

    Rosenkranz, J., Reichwald-Klugger, E., Oh, J., Turzer, M., Mehls, O. & Schaefer, F., 09.2005, In: PEDIATR NEPHROL. 20, 9, p. 1288-94 7 p.

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

  10. Acute purulent pericarditis in pneumococcal meningitis

    Blohm, M. E. G., Schroten, H., Heusch, A., Christaras, A., Micek, M., Wintgens, J., Mayatepek, E. & Hoehn, T., 08.2005, In: INTENS CARE MED. 31, 8, p. 1142

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

  11. Impaired autofeedback regulation of hypothalamic norepinephrine release in experimental uremia

    Klein, K., Daschner, M., Vogel, M., Oh, J., Feuerstein, T. J. & Schaefer, F., 07.2005, In: J AM SOC NEPHROL. 16, 7, p. 2081-7 7 p.

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

  12. Promotion of importin alpha-mediated nuclear import by the phosphorylation-dependent binding of cargo protein to 14-3-3

    Faul, C., Hüttelmaier, S., Oh, J., Hachet, V., Singer, R. H. & Mundel, P., 09.05.2005, In: J CELL BIOL. 169, 3, p. 415-24 10 p.

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

  13. Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner

    Asanuma, K., Kim, K., Oh, J., Giardino, L., Chabanis, S., Faul, C., Reiser, J. & Mundel, P., 05.2005, In: J CLIN INVEST. 115, 5, p. 1188-98 11 p.

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

  14. Editorial: antifolates in prevention of HIV-associated opportunistic infections and in intermittent preventive treatment of malaria in Africa

    Kobbe, R., Marks, F., May, J. & Meyer, C. G., 01.04.2005, In: TROP MED INT HEALTH. 10, 4, p. 293-4 2 p.

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

  15. No association of histamine- N-methyltransferase polymorphism with asthma or bronchial hyperresponsiveness in two German pediatric populations

    Deindl, P., Peri-Jerkan, S., Deichmann, K., Niggemann, B., Lau, S., Sommerfeld, C., Sengler, C., Müller, S., Wahn, U., Nickel, R., Heinzmann, A. & German Multicenter Atopy Study Group, 01.02.2005, In: PEDIAT ALLERG IMM-UK. 16, 1, p. 40-2 3 p.

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

  16. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

    van Diggelen, O. P., Voznyi, Y. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R. & Harzer, K., 2005, In: J INHERIT METAB DIS. 28, 5, p. 733-741 5.

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

  17. Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.

    Torremans, A., Marescau, B., Possemiers, I., Debby, V. D., Isbrandt, D., Isbrandt, D. & Paul, P., 2005, In: J NEUROL SCI. 231, 1-2, p. 49-55 1-2.

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

  18. Changes of lymphocyte populations in pediatric steroid-sensitive nephrotic syndrome are more pronounced in remission than in relapse.

    Kemper, M. J., Zepf, K., Klaassen, I., Link, A. & Müller-Wiefel, D. E., 2005, In: AM J NEPHROL. 25, 2, p. 132-137 2.

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

  19. Children with steroid-sensitive nephrotic syndrome come of age: long-term outcome.

    Rüth, E-M., Kemper, M. J., Leumann, E. P., Laube, G. F. & Neuhaus, T. J., 2005, In: J PEDIATR-US. 147, 2, p. 202-207 2.

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

  20. Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1?

    Kemper, M. J. & Markus, J., 2005, In: PEDIATR TRANSPLANT. 9, 6, p. 693-696 6.

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

  21. Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

    Peters, H. C., Hu, H., Pongs, O., Storm, J. F. & Isbrandt, D., 2005, In: NAT NEUROSCI. 8, 1, p. 51-60 1.

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

  22. Contribution of N- and C-terminal Kv4.2 channel domains to KChIP interaction [corrected]

    Callsen, B., Isbrandt, D., Sauter, K., Hartmann, L. S., Pongs, O. & Bähring, R., 2005, In: J PHYSIOL-LONDON. 568, 2, p. 397-412 2.

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

  23. Cumulative incidence rates of the mucopolysaccharidoses in Germany.

    Baehner, F., Schmiedeskamp, C., Krummenauer, F., Miebach, E., Bajbouj, M., Whybra, C., Kohlschütter, A., Kampmann, C. & Beck, M., 2005, In: J INHERIT METAB DIS. 28, 6, p. 1011-1017 6.

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

  24. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.

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

  25. Electron microscopy and microcalorimetry of the postnatal rat heart (Rattus norvegicus).

    Mühlfeld, C., Singer, D., Engelhardt, N., Richter, J. & Schmiedl, A., 2005, In: COMP BIOCHEM PHYS A. 141, 3, p. 310-318 3.

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

  26. 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

  27. Hepatoblastoma in a child with progressive familial intrahepatic cholestasis.

    Richter, A., Grabhorn, E., Briem-Richter, A., Schaefer, H. J., Burdelski, M. & Ganschow, R., 2005, In: PEDIATR TRANSPLANT. 9, 6, p. 805-808 6.

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

  28. 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

  29. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.

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

  30. Hypogammaglobulinemia in pediatric liver transplant recipients.

    Ganschow, R., Englert, C., Grabhorn, E., Briem-Richter, A., Hinrichs, B., Broering, D. C., Rogiers, X. & Burdelski, M., 2005, In: PEDIATR TRANSPLANT. 9, 2, p. 215-219 2.

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

  31. 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

  32. [Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law]

    van den Bussche, H., Anders, S., Ehrhardt, M., Göttsche, T., Hüneke, B., Kohlschütter, A., Kothe, R., Kuhnigk, O., Neuber, K., Rijntjes, M., Quellmann, C. & Harendza, S., 2005, In: Z Arztl Fortbild Qualitatssich. 99, 7, p. 419-423 7.

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

  33. Long-term results of basiliximab induction immunosuppression in pediatric liver transplant recipients.

    Ganschow, R., Grabhorn, E., Schulz, A., Alexander, V. H., Rogiers, X. & Burdelski, M., 2005, In: PEDIATR TRANSPLANT. 9, 6, p. 741-745 6.

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

  34. Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.

    Kan, H. E., Buse-Pot, T. E., Peco, R., Isbrandt, D., Heerschap, A. & de Haan, A., 2005, In: AM J PHYSIOL-CELL PH. 289, 1, p. 113-119 1.

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

  35. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

    Stephan, T., Muschol, N., Reutter, G., Cantz, M., Ullrich, K. & Braulke, T., 2005, In: AM J MED GENET A. 137, 3, p. 235-240 3.

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

  36. Pediatric transplantation: the Hamburg experience.

    Kim, J-S., Grotelüschen, R., Mueller, T., Ganschow, R., Bicak, T., Wilms, C., Mueller, L., Helmke, K., Burdelski, M., Rogiers, X. & Broering, D. C., 2005, In: TRANSPLANTATION. 79, 9, p. 1206-1209 9.

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

  37. Primary hyperoxaluria--the German experience.

    Hoppe, B., Latta, K., von Schnakenburg, C. & Kemper, M. J., 2005, In: AM J NEPHROL. 25, 3, p. 276-281 3.

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

  38. Psychosocial impact of living-related kidney transplantation on donors and partners.

    Neuhaus, T. J., Wartmann, M., Weber, M., Landolt, M. A., Laube, G. F. & Kemper, M. J., 2005, In: PEDIATR NEPHROL. 20, 2, p. 205-209 2.

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

  39. Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.

    Michiel, T. H., Lygate, C. A., Fischer, A., Schneider, J. E., Sang, A. E., Hulbert, K., Sebag-Montefiore, L., Watkins, H., Clarke, K., Isbrandt, D., Wallis, J. & Neubauer, S., 2005, In: CIRCULATION. 111, 19, p. 2477-2485 19.

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

  40. Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.

    Lukacs, Z., Dietrich, A., Ganschow, R., Kohlschütter, A. & Kruithof, R., 2005, In: CLIN CHEM LAB MED. 43, 2, p. 141-145 2.

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

  41. The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

    Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M. & Mengel, E., 2005, In: J INHERIT METAB DIS. 28, 5, p. 803-805 5.

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

  42. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

    Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H-G., Steinmann, B. & Schneppenheim, R., 2005, In: HUM MUTAT. 25, 6, p. 594 6.

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

  43. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

    Siintola, E., Topcu, M., Kohlschütter, A., Salonen, T., Joensuu, T., Anttonen, A-K. & Lehesjoki, A-E., 2005, In: CLIN GENET. 68, 2, p. 167-173 2.

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

  44. 2004

  45. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting

    Storch, S., Pohl, S. & Braulke, T., 17.12.2004, In: J BIOL CHEM. 279, 51, p. 53625-34 10 p.

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

  46. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

    Coenen, M. J. H., van den Heuvel, L. P., Ugalde, C., Ten Brinke, M., Nijtmans, L. G. J., Trijbels, F. J. M., Beblo, S., Maier, E. M., Muntau, A. C. & Smeitink, J. A. M., 10.2004, In: ANN NEUROL. 56, 4, p. 560-4 5 p.

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

  47. Podocyte migration during nephrotic syndrome requires a coordinated interplay between cathepsin L and alpha3 integrin

    Reiser, J., Oh, J., Shirato, I., Asanuma, K., Hug, A., Mundel, T. M., Honey, K., Ishidoh, K., Kominami, E., Kreidberg, J. A., Tomino, Y. & Mundel, P., 13.08.2004, In: J BIOL CHEM. 279, 33, p. 34827-32 6 p.

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

  48. Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease

    Büning, C., Halangk, J., Dignass, A., Ockenga, J., Deindl, P., Nickel, R., Genschel, J., Landt, O., Lochs, H., Schmidt, H. & Witt, H., 01.06.2004, In: DIGEST LIVER DIS. 36, 6, p. 388-91 4 p.

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

  49. A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations

    Barnes, K. C., Caraballo, L., Muñoz, M., Zambelli-Weiner, A., Ehrlich, E., Burki, M., Jimenez, S., Mathias, R. A., Stockton, M. L., Deindl, P., Mendoza, L., Hershey, G. K., Nickel, R. & Wills-Karp, M., 01.05.2004, In: CLIN EXP ALLERGY. 34, 5, p. 736-44 9 p.

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

  50. Induction of B7-1 in podocytes is associated with nephrotic syndrome

    Reiser, J., von Gersdorff, G., Loos, M., Oh, J., Asanuma, K., Giardino, L., Rastaldi, M. P., Calvaresi, N., Watanabe, H., Schwarz, K., Faul, C., Kretzler, M., Davidson, A., Sugimoto, H., Kalluri, R., Sharpe, A. H., Kreidberg, J. A. & Mundel, P., 05.2004, In: J CLIN INVEST. 113, 10, p. 1390-7 8 p.

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

  51. C2 blood concentrations of orally administered cyclosporine in pediatric liver graft recipients with a body weight below 10 kg

    Ganschow, R., Richter, A., Grabhorn, E., Schulz, A., von Hugo, A., Mir, T., Broering, D. C., Rogiers, X., Hinrichs, B. & Burdelski, M., 04.2004, In: PEDIATR TRANSPLANT. 8, 2, p. 185-188 4 p., 2.

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

  52. Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study

    Liu, X., Beaty, T. H., Deindl, P., Huang, S-K., Lau, S., Sommerfeld, C., Fallin, M. D., Kao, W. H. L., Wahn, U. & Nickel, R., 01.03.2004, In: J ALLERGY CLIN IMMUN. 113, 3, p. 489-95 7 p.

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

  53. Dynamic (re)organization of the podocyte actin cytoskeleton in the nephrotic syndrome

    Oh, J., Reiser, J. & Mundel, P., 02.2004, In: PEDIATR NEPHROL. 19, 2, p. 130-7 8 p.

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

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