Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2009

  2. Proteomic analysis of mononuclear cells of patients with minimal-change nephrotic syndrome of childhood.

    González, E., Neuhaus, T., Kemper, M. J. & Girardin, E., 2009, In: NEPHROL DIAL TRANSPL. 24, 1, p. 149-155 1.

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

  3. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

    Sarpong, A., Schottmann, G., Rüther, K., Stoltenburg, G., Kohlschütter, A., Hübner, C. & Schuelke, M., 2009, In: CLIN GENET.

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

  4. Refsum disease

    Kohlschütter, A., 2009, Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London, p. 1812-1813 2 p.

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

  5. Respiratory response of malignant and placental cells to changes in oxygen concentration.

    Garedew, A., Kämmerer, U. & Singer, D., 2009, In: RESP PHYSIOL NEUROBI. 165, 2-3, p. 154-160 2-3.

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

  6. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

    Lebrun, A-H., Storch, S., Rüschendorf, F., Schmiedt, M-L., Kyttälä, A., Mole, S. E., Kitzmüller, C., Saar, K., Mewasingh, L. D., Boda, V., Kohlschütter, A., Ullrich, K., Braulke, T. & Schulz, A., 2009, In: HUM MUTAT. 30, 5, p. 651-661 5.

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

  7. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

    Henneke, M., Diekmann, S., Ohlenbusch, A., Kaiser, J., Engelbrecht, V., Kohlschütter, A., Krätzner, R., Madruga-Garrido, M., Mayer, M., Opitz, L., Rodriguez, D., Rüschendorf, F., Schumacher, J., Thiele, H., Thoms, S., Steinfeld, R., Nürnberg, P. & Gärtner, J., 2009, In: NAT GENET. 41, 7, p. 773-775 7.

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

  8. Sorting of lysosomal proteins.

    Braulke, T. & Bonifacino, J. S., 2009, In: BBA-MOL CELL RES. 1793, 4, p. 605-614 4.

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

  9. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.

    Wolf, N. I., Rahman, S., Schmitt, B., Taanman, J-W., Duncan, A. J., Harting, I., Wohlrab, G., Ebinger, F., Rating, D. & Bast, T., 2009, In: EPILEPSIA. 50, 6, p. 1596-1607 6.

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

  10. The insulin receptor substrate of 53 kDa (IRSp53) limits hippocampal synaptic plasticity.

    Sawallisch, C., Berhörster, K., Disanza, A., Mantoani, S., Kintscher, M., Stoenica, L., Dityatev, A., Sieber, S., Kindler, S., Morellini, F., Schweizer, M., Boeckers, T. M., Korte, M., Scita, G. & Kreienkamp, H-J., 2009, In: J BIOL CHEM. 284, 14, p. 9225-9236 14.

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

  11. The value of immunoprophylaxis for cytomegalovirus infection with intravenous immunoglobulin in pediatric liver transplant recipients receiving a low-dose immunosupressive regimen.

    Krampe, K., Briem-Richter, A., Fischer, L., Nashan, B. & Ganschow, R., 2009, In: PEDIATR TRANSPLANT.

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

  12. Towards understanding the neuronal ceroid lipofuscinoses.

    Kohlschütter, A. & Schulz, A., 2009, In: BRAIN DEV-JPN. 31, 7, p. 499-502 7.

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

  13. Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth.

    Brinkert, F., Ganschow, R., Helmke, K., Harps, E., Fischer, L., Nashan, B., Hoppe, B., Kulke, S., Müller-Wiefel, D. E. & Kemper, M. J., 2009, In: TRANSPLANTATION. 87, 9, p. 1415-1421 9.

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

  14. Treatment recommendations in long-chain fatty acid oxidation defects: consensus 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

  15. Urinary proteome pattern in children with renal Fanconi syndrome.

    Drube, J., Schiffer, E., Mischak, H., Kemper, M. J., Neuhaus, T., Pape, L., Lichtinghagen, R. & Ehrich, J. H. H., 2009, In: NEPHROL DIAL TRANSPL. 24, 7, p. 2161-2169 7.

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

  16. Urinary tract infections in children after renal transplantation.

    John, U. & Kemper, M. J., 2009, In: PEDIATR NEPHROL. 24, 6, p. 1129-1136 6.

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

  17. 2008

  18. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

    Keyser, B., Mühlhausen, C., Dickmanns, A., Christensen, E., Muschol, N., Ullrich, K. & Braulke, T., 15.12.2008, In: HUM MOL GENET. 17, 24, p. 3854-3863 10 p., 24.

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

  19. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

    Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P. & Berger, J., 05.12.2008, In: BIOCHEM BIOPH RES CO. 377, 1, p. 176-80 5 p.

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

  20. Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis

    Breuer, C., Janssen, G., Laws, H-J., Schaper, J., Mayatepek, E., Schroten, H. & Tenenbaum, T., 01.12.2008, In: EUR J PEDIATR. 167, 12, p. 1449-52 4 p.

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

  21. Defined carboxy-terminal fragments of insulin-like growth factor (IGF) binding protein-2 exert similar mitogenic activity on cultured rat growth plate chondrocytes as IGF-I

    Kiepe, D., Van Der Pas, A., Ciarmatori, S., Ständker, L., Schütt, B., Hoeflich, A., Hügel, U., Oh, J. & Tönshoff, B., 10.2008, In: ENDOCRINOLOGY. 149, 10, p. 4901-11 11 p.

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

  22. Cinacalcet does not affect longitudinal growth but increases body weight gain in experimental uraemia

    Nakagawa, K., Pérez, E. C., Oh, J., Santos, F., Geldyyev, A., Gross, M-L., Schaefer, F. & Schmitt, C. P., 09.2008, In: NEPHROL DIAL TRANSPL. 23, 9, p. 2761-7 7 p.

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

  23. Initial report from the Hunter Outcome Survey

    Wraith, J. E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., HOS Investigators & Muschol, N. M., 01.07.2008, In: GENET MED. 10, 7, p. 508-16 9 p.

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

  24. Immunophenotyping of the human bulge Region: the quest to define useful in situ markers for human epithelial hair follicle stem cells and their niche

    Kloepper, J. E., Tiede, S., Brinckmann, J., Reinhardt, D. P., Meyer, W., Faessler, R. & Paus, R., 07.2008, In: EXP DERMATOL. 17, 7, p. 592-609 18 p.

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

  25. Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

    Gersting, S. W., Kemter, K. F., Staudigl, M., Messing, D. D., Danecka, M. K., Lagler, F. B., Sommerhoff, C. P., Roscher, A. A. & Muntau, A. C., 07.2008, In: AM J HUM GENET. 83, 1, p. 5-17 13 p.

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

  26. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

    Keyser, B., Glatzel, M., Stellmer, F., Kortmann, B., Lukacs, Z., Kölker, S., Sauer, S. W., Muschol, N., Herdering, W., Thiem, J., Goodman, S. I., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 06.2008, In: BBA-MOL BASIS DIS. 1782, 6, p. 385-390 6 p., 6.

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

  27. Fatal familial insomnia: Clinical features and early identification

    Krasnianski, A., Bartl, M., Sanchez Juan, P. J., Heinemann, U., Meissner, B., Varges, D., Schulze-Sturm, U., Kretzschmar, H. A., Schulz-Schaeffer, W. J. & Zerr, I., 05.2008, In: ANN NEUROL. 63, 5, p. 658-61 4 p.

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

  28. SIX2 and BMP4 mutations associate with anomalous kidney development

    Weber, S., Taylor, J. C., Winyard, P., Baker, K. F., Sullivan-Brown, J., Schild, R., Knüppel, T., Zurowska, A. M., Caldas-Alfonso, A., Litwin, M., Emre, S., Ghiggeri, G. M., Bakkaloglu, A., Mehls, O., Antignac, C., Network, E., Schaefer, F. & Burdine, R. D., 05.2008, In: J AM SOC NEPHROL. 19, 5, p. 891-903 13 p.

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

  29. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

    Meyer, A., Kossow, K., Gal, A., Steglich, C., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 05.2008, In: HUM MUTAT. 29, 5, p. 770 5.

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

  30. Simvastatin treatment shows no effect on the incidence of cerebral malaria or parasitemia during experimental malaria

    Kobbe, R., Schreiber, N., May, J. & Jacobs, T., 01.04.2008, In: ANTIMICROB AGENTS CH. 52, 4, p. 1583-4 2 p.

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

  31. Q fever in young children, Ghana

    Kobbe, R., Kramme, S., Kreuels, B., Adjei, S., Kreuzberg, C., Panning, M., Adjei, O., Fleischer, B. & May, J., 01.02.2008, In: EMERG INFECT DIS. 14, 2, p. 344-6 3 p.

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

  32. Spatial variation of malaria incidence in young children from a geographically homogeneous area with high endemicity

    Kreuels, B., Kobbe, R., Adjei, S., Kreuzberg, C., von Reden, C., Bäter, K., Klug, S., Busch, W., Adjei, O. & May, J., 01.01.2008, In: J INFECT DIS. 197, 1, p. 85-93 9 p.

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

  33. Therapeutic and prophylactic effect of intermittent preventive anti-malarial treatment in infants (IPTi) from Ghana and Gabon

    May, J., Adjei, S., Busch, W., Gabor, J. J., Issifou, S., Kobbe, R., Kreuels, B., Lell, B., Schwarz, N. G., Adjei, O., Kremsner, P. G. & Grobusch, M. P., 01.01.2008, In: MALARIA J. 7, p. 198

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

  34. Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.

    Jabs, S., Quitsch, A., Käkelä, R., Koch, B., Tyynelä, J., Helmut, B., Glatzel, M., Walkley, S., Saftig, P., Vanier, M. T. & Braulke, T., 2008, In: J NEUROCHEM. 106, 3, p. 1415-1425 3.

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

  35. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

    Engel, K., Nuoffer, J-M., Mühlhausen, C., Klaus, V., Largiadèr, C. R., Tsiakas, K. K., Santer, R., Wermuth, B. & Häberle, J., 2008, In: MOL GENET METAB. 94, 3, p. 292-297 3.

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

  36. Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.

    Fischer-Maas, L., Schneppenheim, R., Oyen, F., Grabhorn, E., Briem-Richter, A., Fischer, L. & Ganschow, R., 2008, In: PEDIATR TRANSPLANT. 12, 7, p. 769-772 7.

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

  37. AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.

    Chapuy, B., Tikkanen, R., Mühlhausen, C., Wenzel, D., von Figura, K. & Höning, S., 2008, In: TRAFFIC. 9, 7, p. 1157-1172 7.

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

  38. Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study.

    Schneider, J. E., Stork, L-A., Bell, J. T., Michiel, T. H., Isbrandt, D., Clarke, K., Watkins, H., Lygate, C. A. & Neubauer, S., 2008, In: J CARDIOVASC MAGN R. 10, 1, p. 9 1.

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

  39. Creatine uptake in mouse hearts with genetically altered creatine levels.

    Michiel, T. H., Makinen, K., Sebag-Montefiore, L., Hunyor, I., Fischer, A., Wallis, J., Isbrandt, D., Lygate, C. & Neubauer, S., 2008, In: J MOL CELL CARDIOL. 45, 3, p. 453-459 3.

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

  40. Disease progression in HIV-1 infected children and adolescents--results of a German-Austrian cohort study.

    Funk, M. B., Buchholz, B., Notheis, G., Neubert, J., Feiterna-Sperling, C., Ganschow, R., Simon, T., Hornemann, F., Peters, A. M. J., Rütschle, H., Horneff, G., Lechner, E., Hanschmann, K. M. O. & Wintergerst, U., 2008, In: EUR J MED RES. 13, 8, p. 371-378 8.

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

  41. Does proximal myotonic myopathy show anticipation?

    Kruse, B., Wöhrle, D., Steinbach, P. & Gal, A., 2008, In: HUM MUTAT. 29, 8, p. 100-102 8.

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

  42. Efficacy and safety of basiliximab in pediatric renal transplant patients receiving cyclosporine, mycophenolate mofetil, and steroids.

    Offner, G., Toenshoff, B., Höcker, B., Krauss, M., Bulla, M., Cochat, P., Fehrenbach, H., Fischer, W., Foulard, M., Hoppe, B., Hoyer, P. F., Jungraithmayr, T. C., Klaus, G., Latta, K., Leichter, H., Mihatsch, M. J., Misselwitz, J., Montoya, C., Müller-Wiefel, D. E., Neuhaus, T. J., Pape, L., Querfeld, U., Plank, C., Schwarke, D., Wygoda, S. & Zimmerhackl, L. B., 2008, In: TRANSPLANTATION. 86, 9, p. 1241-1248 9.

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

  43. Elevated asymmetric dimethylarginine (ADMA) and inverse correlation between circulating ADMA and glomerular filtration rate in children with sporadic focal segmental glomerulosclerosis (FSGS).

    Lücke, T., Kanzelmeyer, N., Chobanyan, K., Tsikas, D., Franke, D., Kemper, M. J., Ehrich, J. H. H. & Das, A. M., 2008, In: NEPHROL DIAL TRANSPL. 23, 2, p. 734-740 2.

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

  44. Emergency liver transplantation in neonates with acute liver failure: long-term follow-up.

    Grabhorn, E., Briem-Richter, A., Fischer, L. & Ganschow, R., 2008, In: TRANSPLANTATION. 86, 7, p. 932-936 7.

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

  45. Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

    Thierfelder, N., Demuth, I., Burghardt, N., Schmelz, K., Sperling, K., Chrzanowska, K. H., Seemanova, E. & Digweed, M., 2008, In: EUR J CELL BIOL. 87, 2, p. 111-121 2.

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

  46. Gram-negative peritonitis in children undergoing long-term peritoneal dialysis.

    Zurowska, A., Feneberg, R., Warady, B. A., Zimmering, M., Maria, M., Testa, S., Calyskan, S., Drozdz, D., Salusky, I., Kemper, M. J., Ekim, M., Verrina, E., Misselwitz, J. & Schaefer, F., 2008, In: AM J KIDNEY DIS. 51, 3, p. 455-462 3.

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

  47. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.

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

  48. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    Schumacher, U., Lukacs, Z., Kaltschmidt, C., Freudlsperger, C., Schulz, D., Kompisch, K., Müller, R., Rudolph, T. K., Santer, R., Lorke, D. & Ullrich, K., 2008, In: NEUROBIOL DIS. 32, 3, p. 385-390 3.

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

  49. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.

    Khneisser, I., Adib, S., Megarbane, A. & Lukacs, Z., 2008, In: J INHERIT METAB DIS.

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

  50. Liver transplantation for fulminant hepatic failure in infancy: A single center experience.

    Strauss, A., Grabhorn, E., Sornsakrin, M., Briem-Richter, A., Fischer, L., Nashan, B. & Ganschow, R., 2008, In: PEDIATR TRANSPLANT.

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

  51. Membrane translocation of glutaric acid and its derivatives.

    Mühlhausen, C., Burckhardt, B., Hagos, Y., Burckhardt, G., Keyser, B., Lukacs, Z., Ullrich, K. & Braulke, T., 2008, In: J INHERIT METAB DIS.

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

  52. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

    Winchester, B., Bali, D., Bodamer, O. A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumi, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O. P., Wuyts, B., Zakharova, E. & Keutzer, J., 2008, In: MOL GENET METAB. 93, 3, p. 275-281 3.

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

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