Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

1301 - 1350 out of 1,684Page size: 50

Publications

  1. 2008

  2. Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

    Martin-Subero, J. I., Bibikova, M., Mackay, D., Wickham-Garcia, E., Sellami, N., Richter, J., Santer, R., Caliebe, A., Fan, J-B., Temple, I. K. & Siebert, R., 2008, In: AM J MED GENET A. 146, 24, p. 3227-3229 24.

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

  3. Molecular analysis of the GlcNac-1-phosphotransferase.

    Braulke, T., Pohl, S. & Storch, S., 2008, In: J INHERIT METAB DIS.

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

  4. Molecular order in mucolipidosis II and III nomenclature.

    Cathey, S. S., Kudo, M., Stephan, T., Raas-Rothschild, A., Braulke, T., Beck, M., Taylor, H. A., Canfield, W. M., Leroy, J. G., Neufeld, E. F. & McKusick, V. A., 2008, In: AM J MED GENET A. 146, 4, p. 512-513 4.

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

  5. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.

    Ding, X-Q., Fiehler, J., Kohlschütter, B., Wittkugel, O., Grzyska, U., Zeumer, H. & Ullrich, K., 2008, In: J MAGN RESON IMAGING. 27, 5, p. 998-1004 5.

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

  6. Multiple post-translational modifications of mouse insulin-like growth factor binding protein-6 expressed in epithelial Madin-Darby canine kidney cells.

    Shalamanova, L., Kübler, B., Storch, S., Scharf, J-G. & Braulke, T., 2008, In: MOL CELL ENDOCRINOL. 295, 1-2, p. 18-23 1-2.

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

  7. Neonates with severe infantile hepatic hemangioendothelioma: limitations of liver transplantation.

    Grabhorn, E., Briem-Richter, A., Fischer, L., Krebs-Schmitt, D. & Ganschow, R., 2008, In: PEDIATR TRANSPLANT.

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

  8. Oral everolimus inhibits neointimal proliferation in prosthetic pulmonary valved stents in pigs.

    Kuehne, T., Pietzner, K., Lehmkuhl, H. B., Gelernter, D., Peters, B., Krueger, J. J., Meinus, C., Klimes, K., Brinkert, F., Ewert, P. & Berger, F., 2008, In: J HEART VALVE DIS. 17, 4, p. 465-472 4.

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

  9. Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.

    Hagos, Y., Krick, W., Braulke, T., Mühlhausen, C., Burckhardt, G. & Burckhardt, B. C., 2008, In: PFLUG ARCH EUR J PHY. 457, 1, p. 223-231 1.

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

  10. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    Jäggi, L., Zurflüh, M. R., Schuler, A., Ponzone, A., Porta, F., Fiori, L., Giovannini, M., Santer, R., Hoffmann, G. F., Ibel, H., Wendel, U., Ballhausen, D., Baumgartner, M. R. & Blau, N., 2008, In: MOL GENET METAB. 93, 3, p. 295-305 3.

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

  11. Pharmacokinetic and pharmacodynamic properties of oral L-citrulline and L-arginine: impact on nitric oxide metabolism.

    Schwedhelm, E., Maas, R., Freese, R., Jung, D., Lukacs, Z., Jambrecina, A., Spickler, W., Schulze, F. & Böger, R., 2008, In: BRIT J CLIN PHARMACO. 65, 1, p. 51-59 1.

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

  12. Pharmacokinetics and immunodynamics of basiliximab in pediatric renal transplant recipients on mycophenolate mofetil comedication.

    Höcker, B., Kovarik, J. M., Daniel, V., Opelz, G., Fehrenbach, H., Holder, M., Hoppe, B., Hoyer, P., Jungraithmayr, T. C., Köpf-Shakib, S., Laube, G. F., Müller-Wiefel, D. E., Offner, G., Plank, C., Schröder, M., Weber, L. T., Zimmerhackl, L. B. & Tönshoff, B., 2008, In: TRANSPLANTATION. 86, 9, p. 1234-1240 9.

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

  13. Pregnancies in glycogen storage disease type Ia.

    Martens, D. H. J., Rake, J. P., Schwarz, M., Ullrich, K., Weinstein, D. A., Merkel, M., Sauer, P. J. J. & Smit, G. P. A., 2008, In: AM J OBSTET GYNECOL. 198, 6, p. 1-7 6.

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

  14. Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.

    Landvogt, C., Mengel, E., Bartenstein, P., Buchholz, H. G., Schreckenberger, M., Siessmeier, T., Scheurich, A., Feldmann, R., Weglage, J., Cumming, P., Zepp, F. & Ullrich, K., 2008, In: J CEREBR BLOOD F MET. 28, 4, p. 824-831 4.

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

  15. Rituximab: is replacement of cyclophosphamide and calcineurin inhibitors in steroid-dependent nephrotic syndrome possible?

    Dötsch, J., Müller-Wiefel, D. E. & Kemper, M. J., 2008, In: PEDIATR NEPHROL. 23, 1, p. 3-7 1.

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

  16. Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

    Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J. & Santer, R., 2008, In: NEUROPEDIATRICS. 39, 1, p. 51-54 1.

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

  17. The clinical course of steroid-sensitive childhood nephrotic syndrome is associated with a functional IL12B promoter polymorphism.

    Müller-Berghaus, J., Kemper, M. J., Hoppe, B., Querfeld, U., Müller-Wiefel, D. E., Morahan, G., Schadendorf, D. & Tenbrock, K., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3841-3844 12.

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

  18. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

    Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J. & Santer, R., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3874-3879 12.

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

  19. 2007

  20. Activated protein C protects against diabetic nephropathy by inhibiting endothelial and podocyte apoptosis

    Isermann, B., Vinnikov, I. A., Madhusudhan, T., Herzog, S., Kashif, M., Blautzik, J., Corat, M. A. F., Zeier, M., Blessing, E., Oh, J., Gerlitz, B., Berg, D. T., Grinnell, B. W., Chavakis, T., Esmon, C. T., Weiler, H., Bierhaus, A. & Nawroth, P. P., 11.2007, In: NAT MED. 13, 11, p. 1349-58 10 p.

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

  21. Immune responses after single-dose sulphadoxine-pyrimethamine indicate underestimation of protective efficacy of intermittent preventive treatment in infants

    Schreiber, N., Kobbe, R., Adjei, S., Adjei, O., Klinkert, M-Q. & May, J., 01.10.2007, In: TROP MED INT HEALTH. 12, 10, p. 1157-63 7 p.

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

  22. Cell type-specific gating of perisomatic inhibition by cholecystokinin

    Földy, C., Lee, S. Y., Szabadics, J., Neu, A. & Soltesz, I., 01.09.2007, In: NAT NEUROSCI. 10, 9, p. 1128-30 3 p.

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

  23. A randomized controlled trial of extended intermittent preventive antimalarial treatment in infants

    Kobbe, R., Kreuzberg, C., Adjei, S., Thompson, B., Langefeld, I., Thompson, P. A., Abruquah, H. H., Kreuels, B., Ayim, M., Busch, W., Marks, F., Amoah, K., Opoku, E., Meyer, C. G., Adjei, O. & May, J., 01.07.2007, In: CLIN INFECT DIS. 45, 1, p. 16-25 10 p.

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

  24. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria

    Beblo, S., Reinhardt, H., Demmelmair, H., Muntau, A. C. & Koletzko, B., 05.2007, In: J PEDIATR-US. 150, 5, p. 479-84 6 p.

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

  25. Three reactive compartments in venous malformations

    Ebenebe, C. U., Diehl, S., Bartnick, K., Dörge, H., Becker, J., Schweigerer, L. & Wilting, J., 05.2007, In: THROMB HAEMOSTASIS. 97, 5, p. 763-73 11 p.

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

  26. Opposing modifications in intrinsic currents and synaptic inputs in post-traumatic mossy cells: evidence for single-cell homeostasis in a hyperexcitable network

    Howard, A. L., Neu, A., Morgan, R. J., Echegoyen, J. C. & Soltesz, I., 01.03.2007, In: J NEUROPHYSIOL. 97, 3, p. 2394-409 16 p.

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

  27. Chloroquine-resistant malaria in Malawi

    Kobbe, R., Meyer, C. G. & May, J., 22.02.2007, In: NEW ENGL J MED. 356, 8, p. 868; author reply 869

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

  28. Early peristalsis following epidural analgesia during abdominal surgery in an extremely low birth weight infant

    Hoehn, T., Jetzek-Zader, M., Blohm, M. & Mayatepek, E., 02.2007, In: PEDIATR ANESTH. 17, 2, p. 176-9 4 p.

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

  29. Prevention of plasticity of endocannabinoid signaling inhibits persistent limbic hyperexcitability caused by developmental seizures

    Chen, K., Neu, A., Howard, A. L., Földy, C., Echegoyen, J., Hilgenberg, L., Smith, M., Mackie, K. & Soltesz, I., 03.01.2007, In: J NEUROSCI. 27, 1, p. 46-58 13 p.

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

  30. Homeostatic plasticity studied using in vivo hippocampal activity-blockade: synaptic scaling, intrinsic plasticity and age-dependence

    Echegoyen, J., Neu, A., Graber, K. D. & Soltesz, I., 01.01.2007, In: PLOS ONE. 2, 8, p. e700

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

  31. Malaria incidence and efficacy of intermittent preventive treatment in infants (IPTi)

    Kobbe, R., Adjei, S., Kreuzberg, C., Kreuels, B., Thompson, B., Thompson, P. A., Marks, F., Busch, W., Tosun, M., Schreiber, N., Opoku, E., Adjei, O., Meyer, C. G. & May, J., 01.01.2007, In: MALARIA J. 6, p. 163

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

  32. Postsynaptic origin of CB1-dependent tonic inhibition of GABA release at cholecystokinin-positive basket cell to pyramidal cell synapses in the CA1 region of the rat hippocampus

    Neu, A., Földy, C. & Soltesz, I., 01.01.2007, In: J PHYSIOL-LONDON. 578, Pt 1, p. 233-47 15 p.

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

  33. 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.

    Stellmer, F., Keyser, B., Burckhardt, B. C., Koepsell, H., Streichert, T., Glatzel, M., Jabs, S., Thiem, J., Herdering, W., Koeller, D. M., Goodman, S. I., Lukacs, Z., Ullrich, K., Burckhardt, G., Braulke, T. & Mühlhausen, C., 2007, In: J MOL MED. 85, 7, p. 763-770 7.

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

  34. Alteration of the insulin-like growth factor axis during in vitro differentiation of the human osteosarcoma cell line HOS 58.

    Viereck, V., Siggelkow, H., Pannem, R., Braulke, T., Scharf, J-G. & Kübler, B., 2007, In: J CELL BIOCHEM. 102, 1, p. 28-40 1.

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

  35. Angiotensin-converting enzyme inhibitor fetopathy: long-term outcome.

    Laube, G. F., Kemper, M. J., Schubiger, G. & Neuhaus, T. J., 2007, In: ARCH DIS CHILD-FETAL. 92, 5, p. 402-403 5.

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

  36. Antenatal oligohydramnios of renal origin: long-term outcome.

    Klaassen, I., Neuhaus, T. J., Müller-Wiefel, D. E. & Kemper, M. J., 2007, In: NEPHROL DIAL TRANSPL. 22, 2, p. 432-439 2.

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

  37. Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testing.

    Hauffa, B. P., Lehmann, N., Bettendorf, M., Mehls, O., Dörr, H-G., Stahnke, N., Steinkamp, H., Said, E. & Ranke, M. B., 2007, In: EUR J ENDOCRINOL. 157, 5, p. 597-603 5.

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

  38. Clinical relevance of autoantibodies after pediatric liver transplantation.

    Briem-Richter, A., Grabhorn, E., Helmke, K., Manns, M. P., Ganschow, R. & Burdelski, M., 2007, In: CLIN TRANSPLANT. 21, 3, p. 427-432 3.

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

  39. CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation.

    Maecker, B., Jack, T., Zimmermann, M., Abdul-Khaliq, H., Burdelski, M., Fuchs, A., Hoyer, P., Koepf, S., Kraemer, U., Laube, G. F., Müller-Wiefel, D. E., Netz, H., Pohl, M., Toenshoff, B., Wagner, H-J., Wallot, M., Welte, K., Melter, M., Offner, G. & Klein, C., 2007, In: J CLIN ONCOL. 25, 31, p. 4902-4908 31.

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

  40. Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.

    Kan, H. E., Meeuwissen, E., Asten, V., Jack, J., Isbrandt, D., Isbrandt, D. & Heerschap, A., 2007, In: J APPL PHYSIOL. 102, 6, p. 2121-2127 6.

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

  41. C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

    Storch, S., Pohl, S., Quitsch, A., Falley, K. & Braulke, T., 2007, In: TRAFFIC. 8, 4, p. 431-444 4.

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

  42. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

    Kölker, S., Garbade, S. F., Boy, N., Maier, E. M., Meissner, T., Mühlhausen, C., Hennermann, J. B., Lücke, T., Häberle, J., Baumkötter, J., Haller, W., Muller, E., Zschocke, J., Burgard, P. & Hoffmann, G. F., 2007, In: PEDIATR RES. 62, 3, p. 357-363 3.

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

  43. De novo autoimmune hepatitis after liver transplantation.

    Lohse, A. W., Weiler-Normann, C. & Burdelski, M., 2007, In: HEPATOL RES. 37, 3, p. 462 3.

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

  44. Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age.

    Lücke, T., Kanzelmeyer, N., Kemper, M. J., Tsikas, D. & Das, A. M., 2007, In: CLIN CHEM LAB MED. 45, 11, p. 1525-1530 11.

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

  45. Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.

    Lukacs, Z., Hartung, R., Beck, M., Keil, A. & Mengel, E., 2007, In: J INHERIT METAB DIS. 30, 4, p. 614 4.

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

  46. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

    Haas, D., Garbade, S. F., Vohwinkel, C., Muschol, N., Trefz, F. K., Penzien, J. M., Zschocke, J., Hoffmann, G. F. & Burgard, P., 2007, In: J INHERIT METAB DIS. 30, 3, p. 375-387 3.

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

  47. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

    Paesold-Burda, P., Baumgartner, M. R., Santer, R., Bosshard, N. U. & Steinmann, B., 2007, In: J INHERIT METAB DIS. 30, 6, p. 896-902 6.

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

  48. Favorable long-term outcome of nephrotic syndrome after allogeneic hematopoietic stem cell transplantation.

    Kemper, M. J., Güngör, T., Halter, J., Schanz, U. & Neuhaus, T. J., 2007, In: CLIN NEPHROL. 67, 1, p. 5-11 1.

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

  49. Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

    Ho, S., Lukacs, Z., Hoffmann, G. F., Lindner, M. & Wetter, T., 2007, In: CLIN CHEM. 53, 7, p. 1330-1337 7.

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

  50. [Food consumption of children and adolescents in Germany. Results of the German Health Interview and Examination Survey for Children and Adolescents (KiGGS)]

    Mensink, G. B. M., Kleiser, C. & Briem-Richter, A., 2007, In: BUNDESGESUNDHEITSBLA. 50, 5-6, p. 609-623 5-6.

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

  51. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

    Hoffman, T. L., Blanco, E., Lane, A., Galvin-Parton, P., Gadi, I., Santer, R., DeLeón, D., Stanley, C. & Wilson, T. A., 2007, In: CLIN GENET. 71, 6, p. 551-557 6.

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

  52. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

    Schilling, A., Mülhausen, C., Lehmann, W., Santer, R., Schinke, T., Rueger, J. M. & Amling, M., 2007, In: OSTEOPOROSIS INT. 18, 5, p. 659-669 5.

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

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