Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2010

  2. Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages

    Pohl, S., Tiede, S., Marschner, K., Encarnação, M., Castrichini, M., Kollmann, K., Muschol, N., Ullrich, K., Müller-Loennies, S. & Braulke, T., 30.07.2010, In: J BIOL CHEM. 285, 31, p. 23936-23944 9 p., 31.

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

  3. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

    Burton, B. K., Guffon, N., Roberts, J., van der Ploeg, A. T., Jones, S. A., HOS Investigators & Muschol, N. M., 20.07.2010, In: MOL GENET METAB. 101, 2-3, p. 123-9 7 p.

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

  4. Novel human parvovirus 4 genotype 3 in infants, Ghana

    Panning, M., Kobbe, R., Vollbach, S., Drexler, J. F., Adjei, S., Adjei, O., Drosten, C., May, J. & Eis-Hubinger, A. M., 01.07.2010, In: EMERG INFECT DIS. 16, 7, p. 1143-6 4 p.

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

  5. An improved, standardised protocol for the isolation, enrichment and targeted neural differentiation of Nestin+ progenitors from adult human dermis

    Ernst, N., Tiede, S., Tronnier, V., Kruse, C., Zechel, C. & Paus, R., 06.2010, In: EXP DERMATOL. 19, 6, p. 549-55 7 p.

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

  6. Prolactin--a novel neuroendocrine regulator of human keratin expression in situ

    Ramot, Y., Bíró, T., Tiede, S., Tóth, B. I., Langan, E. A., Sugawara, K., Foitzik, K., Ingber, A., Goffin, V., Langbein, L. & Paus, R., 06.2010, In: FASEB J. 24, 6, p. 1768-79 12 p.

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

  7. Sustainability of motor performance after robotic-assisted treadmill therapy in children: an open, non-randomized baseline-treatment study

    Borggraefe, I., Kiwull, L., Schaefer, J. S., Koerte, I., Blaschek, A., Meyer-Heim, A. & Heinen, F., 06.2010, In: EUR J PHYS REHAB MED. 46, 2, p. 125-31 7 p.

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

  8. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

    Gersting, S. W., Lagler, F. B., Eichinger, A., Kemter, K. F., Danecka, M. K., Messing, D. D., Staudigl, M., Domdey, K. A., Zsifkovits, C., Fingerhut, R., Glossmann, H., Roscher, A. A. & Muntau, A. C., 15.05.2010, In: HUM MOL GENET. 19, 10, p. 2039-49 11 p.

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

  9. The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations

    Castro, R., Barroso, M., Rocha, M., Esse, R., Ramos, R., Ravasco, P., Rivera, I. & de Almeida, I. T., 05.2010, In: CLIN BIOCHEM. 43, 7-8, p. 645-9 5 p.

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

  10. Correspondence (letter to the editor): Neurological complications

    Deindl, P. & Varnholt, V., 01.04.2010, In: DTSCH ARZTEBL INT. 107, 13, p. 229; author reply 230

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

  11. Blickdiagnose: Gangstörung und krauses Haar

    Pittner, M. & Kohlschütter, A., 04.2010, In: Neuropäd Klin Prax. 04, p. 125

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

  12. Thyroid-stimulating hormone, a novel, locally produced modulator of human epidermal functions, is regulated by thyrotropin-releasing hormone and thyroid hormones

    Bodó, E., Kany, B., Gáspár, E., Knüver, J., Kromminga, A., Ramot, Y., Bíró, T., Tiede, S., van Beek, N., Poeggeler, B., Meyer, K. C., Wenzel, B. E. & Paus, R., 04.2010, In: ENDOCRINOLOGY. 151, 4, p. 1633-42 10 p.

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

  13. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

    Kohlschütter, A., Bley, A., Brockmann, K., Gärtner, J., Krägeloh-Mann, I., Rolfs, A. & Schöls, L., 02.2010, In: BRAIN DEV-JPN. 32, 2, p. 82-89 8 p.

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

  14. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma

    Wolf, C., Gramer, E., Müller-Myhsok, B., Pasutto, F., Gramer, G., Wissinger, B. & Weisschuh, N., 02.2010, In: J GLAUCOMA. 19, 2, p. 136-41 6 p.

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

  15. Multiplicity of Plasmodium falciparum infection following intermittent preventive treatment in infants

    Buchholz, U., Kobbe, R., Danquah, I., Zanger, P., Reither, K., Abruquah, H. H., Grobusch, M. P., Ziniel, P., May, J. & Mockenhaupt, F. P., 01.01.2010, In: MALARIA J. 9, p. 244

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

  16. Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases

    Bockenhauer, D., van't Hoff, W., Dattani, M., Lehnhardt, A., Subtirelu, M., Hildebrandt, F. & Bichet, D. G., 01.01.2010, In: NEPHRON PHYSIOL. 116, 4, p. p23-9

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

  17. Leptin and the Skin: a new frontier

    Poeggeler, B., Schulz, C., Pappolla, M. A., Bodó, E., Tiede, S., Lehnert, H. & Paus, R., 01.2010, In: EXP DERMATOL. 19, 1, p. 12-8 7 p.

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

  18. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

    Pohl, S., Encarnação, M., Castrichini, M., Müller-Loennies, S., Muschol, N. & Braulke, T., 01.2010, In: AM J MED GENET A. 152, 1, p. 124-132 9 p., 1.

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

  19. Acute renal failure

    Kemper, M. J., 2010, Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media, p. 338-345 7 p.

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

  20. ADP-dependent platelet function prior to and in the early course of pediatric liver transplantation and persisting thrombocytopenia are positively correlated with ischemia/reperfusion injury.

    Jan, S. A. E., Akyildiz, A., Tustas, R. Y., Ganschow, R., Schmelzle, M., Krieg, A., Robson, S. C., Topp, S. A., Rogiers, X., Knoefel, W. T. & Fischer, L., 2010, In: TRANSPL INT. 23, 7, p. 745-752 7.

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

  21. A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.

    Neu, A., Eiselt, M., Paul, M., Sauter, K., Stallmeyer, B., Isbrandt, D. & Schulze-Bahr, E., 2010, In: HUM MUTAT. 31, 8, p. 1609-1621 8.

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

  22. Aktuelle Ergebnisse notfallmedizinischer Forschung 2009/2010

    Hinkelbein, J., Singer, D., Thiele, H., Meixensberger, J. & Böttiger, BW., 2010, In: Notfallmed up2date. 5, 3, p. 253-268 3.

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

  23. A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

    Müller-Loennies, S., Galliciotti, G., Kollmann, K., Glatzel, M. & Braulke, T., 2010, In: AM J PATHOL. 177, 1, p. 240-247 1.

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

  24. Attention and executive functioning deficits in liver-transplanted children.

    Kaller, T., Langguth, N., Ganschow, R., Nashan, B. & Schulz, K-H., 2010, In: TRANSPLANTATION. 90, 12, p. 1567-1573 12.

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

  25. Das nephrotische Syndrom im Kindesalter Das nephrotische Syndrom im Kindesalter

    Klaassen, I. & Kemper, M. J., 2010, In: Kinder- und Jugendmedizin. 10, 4, p. 203-210 4.

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

  26. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

    Dressler, S., Meyer-Marcotty, P., Weisschuh, N., Jablonski-Momeni, A., Pieper, K., Gramer, G. & Gramer, E., 2010, In: CASE REP MED. 2010, p. 621984

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

  27. Diagnostic examination of the child with urolithiasis or nephrocalcinosis.

    Hoppe, B. & Kemper, M. J., 2010, In: PEDIATR NEPHROL. 25, 3, p. 403-413 3.

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

  28. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

    Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.

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

  29. Fibroblast growth factor 23 and bone metabolism in children with chronic kidney disease.

    Van Husen, M., Fischer, A-K., Lehnhardt, A., Klaassen, I., Möller, K., Müller-Wiefel, D. E. & Kemper, M. J., 2010, In: KIDNEY INT. 78, 2, p. 200-206 2.

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

  30. Glycostructures in biological systems - synthesis and function.

    Thiem, J. & Braulke, T., 2010, In: EUR J CELL BIOL. 89, 1, p. 1 1.

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

  31. Hemorrhagic necrotizing pancreatitis with a huge pseudocyst in a child with Crohn's disease.

    Briem-Richter, A., Grabhorn, E., Wenke, K. & Ganschow, R., 2010, In: EUR J GASTROEN HEPAT. 22, 2, p. 234-236 2.

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

  32. Hormonal regulation of human hair follicle epithelial stem cell functions in situ and in vitro

    Tiede, S., Bohm, K., Ramot, Y., Plate, C. & Paus, R., 2010, In: J STEM CELLS REGEN. 6, 2, p. 69

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

  33. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

    Büscher, A. K., Kranz, B., Büscher, R., Hildebrandt, F., Dworniczak, B., Pennekamp, P., Kuwertz-Bröking, E., Wingen, A-M., John, U., Kemper, M. J., Monnens, L., Hoyer, P. F., Weber, S. & Konrad, M., 2010, In: CLIN J AM SOC NEPHRO. 5, 11, p. 2075-2084 11.

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

  34. Improved reversal learning and working memory and enhanced reactivity to novelty in mice with enhanced GABAergic innervation in the dentate gyrus.

    Morellini, F., Sivukhina, E., Stoenica, L., Oulianova, E., Bukalo, O., Jakovcevski, I., Dityatev, A., Irintchev, A. & Schachner, M., 2010, In: CEREB CORTEX. 20, 11, p. 2712-2727 11.

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

  35. Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.

    Steenhuis, P., Herder, S., Gelis, S., Braulke, T. & Storch, S., 2010, In: TRAFFIC. 11, 7, p. 987-1000 7.

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

  36. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

    Matejas, V., Hinkes, B., Alkandari, F., Al-Gazali, L., Annexstad, E., Aytac, M. B., Barrow, M., Bláhová, K., Bockenhauer, D., Cheong, H. I., Maruniak-Chudek, I., Cochat, P., Dötsch, J., Gajjar, P., Hennekam, R. C., Janssen, F., Kagan, M., Kariminejad, A., Kemper, M. J., Koenig, J., Kogan, J., Kroes, H. Y., Kuwertz-Bröking, E., Lewanda, A. F., Medeira, A., Muscheites, J., Niaudet, P., Pierson, M., Saggar, A., Seaver, L., Suri, M., Tsygin, A., Wühl, E., Zurowska, A., Uebe, S., Hildebrandt, F., Antignac, C. & Zenker, M., 2010, In: HUM MUTAT. 31, 9, p. 992-1002 9.

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

  37. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-760 5.

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

  38. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-766 5.

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

  39. Nephronophthisis

    Kemper, M. J., 2010, Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media, p. 209-213 5 p.

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

  40. Nephrotic Syndrome

    Kemper, M. J., 2010, Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media, p. 141-143 3 p.

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

  41. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

    Kurze, A-K., Galliciotti, G., Heine, C., Mole, S. E., Quitsch, A. & Braulke, T., 2010, In: HUM MUTAT. 31, 2, p. 1163-1174 2.

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

  42. Protein kinase a dependent phosphorylation of apical membrane antigen 1 plays an important role in erythrocyte invasion by the malaria parasite.

    Leykauf, K., Treeck, M., Gilson, P. R., Nebl, T., Braulke, T., Cowman, A. F., Gilberger, T. W. & Crabb, B. S., 2010, In: PLOS PATHOG. 6, 6, p. 1000941 6.

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

  43. Second-line Options for Refractory Steroid-sensitive and -resistant Nephrotic Syndrome

    Oh, J. & Kemper, M. J., 2010, In: EXPERT REV CLIN PHAR. 3, 4, p. 527-537 4.

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

  44. Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.

    Schröder, S., Matthes, F., Hyden, P., Andersson, C., Fogh, J., Müller-Loennies, S., Braulke, T., Gieselmann, V. & Matzner, U., 2010, In: GLYCOBIOLOGY. 20, 2, p. 248-259 2.

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

  45. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

    Spiekerkoetter, U., Haussmann, U., Mueller, M., Frank, T. V., Stehn, M., Santer, R. & Lukacs, Z., 2010, In: J PEDIATR-US. 157, 4, p. 668-673 4.

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

  46. Use of guidelines improves the neurological outcome in glutaric aciduria type I.

    Heringer, J., Boy, S. P. N., Ensenauer, R., Assmann, B., Zschocke, J., Harting, I., Lücke, T., Maier, E. M., Mühlhausen, C., Haege, G., Hoffmann, G. F., Burgard, P. & Kölker, S., 2010, In: ANN NEUROL. 68, 5, p. 743-752 5.

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

  47. Value of ultrasound-guided percutaneous liver biopsy in children following liver transplantation.

    Sornsakrin, M., Helmke, K., Briem-Richter, A. & Ganschow, R., 2010, In: J PEDIATR GASTR NUTR. 51, 5, p. 635-637 5.

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

  48. Violence against children: further evidence suggesting a relationship between burns, scalds, and the additional injuries.

    Seifert, D., Krohn, J., Larson, M., Lambe, A., Püschel, K. & Kurth, H., 2010, In: INT J LEGAL MED. 124, 1, p. 49-54 1.

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

  49. 2009

  50. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

    Mehta, A., Beck, M., Elliott, P., Giugliani, R., Linhart, A., Sunder-Plassmann, G., Schiffmann, R., Barbey, F., Ries, M. & Fabry Outcome Survey investigators, 12.12.2009, In: LANCET. 374, 9706, p. 1986-1996 11 p.

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

  51. LuMPIS--a modified luminescence-based mammalian interactome mapping pull-down assay for the investigation of protein-protein interactions encoded by GC-low ORFs

    Vizoso Pinto, M. G., Villegas, J. M., Peter, J., Haase, R., Haas, J., Lotz, A. S., Muntau, A. C. & Baiker, A., 12.2009, In: PROTEOMICS. 9, 23, p. 5303-8 6 p.

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

  52. Similarities between forms of sheep scrapie and Creutzfeldt-Jakob disease are encoded by distinct prion types

    Wemheuer, W. M., Benestad, S. L., Wrede, A., Schulze-Sturm, U., Wemheuer, W. E., Hahmann, U., Gawinecka, J., Schütz, E., Zerr, I., Brenig, B., Bratberg, B., Andréoletti, O. & Schulz-Schaeffer, W. J., 12.2009, In: AM J PATHOL. 175, 6, p. 2566-73 8 p.

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

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