Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2012

  2. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

    Kölker, S., Boy, S. P. N., Heringer, J., Müller, E., Maier, E. M., Ensenauer, R., Mühlhausen, C., Schlune, A., Greenberg, C. R., Koeller, D. M., Hoffmann, G. F., Haege, G. & Burgard, P., 2012, In: MOL GENET METAB. 107, 1-2, p. 72-80 1-2.

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

  3. Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma

    Raas-Rothschild, A., Pohl, S. & Braulke, T., 2012, Lysosomal Storage Disorders: A Practical Guide. WileyBlackwell, London, p. 121-126 6 p.

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

  4. Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.

    Thelen, M., Damme, M., Daμμe, M., Schweizer, M., Hagel, C., Wong, A. M. S., Cooper, J. D., Braulke, T. & Galliciotti, G., 2012, In: PLOS ONE. 7, 4, p. 35493 4.

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

  5. Elevated serum levels of B-cell activating factor in pediatric renal transplant patients.

    Lehnhardt, A., Dunst, F., Van Husen, M., Loos, S., Oh, J., Eiermann, T., Koch, M. & Kemper, M. J., 2012, In: PEDIATR NEPHROL. 27, 8, p. 1389-1395 8.

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

  6. Ertrinkungsunfall eines Kleinkinds im Gartenteich

    Singer, D., 2012, In: Notfallmedizin up2date. 7, p. 9-13

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

  7. Expert recommendations for the laboratory diagnosis of MPS VI.

    Wood, T., Bodamer, O. A., Burin, M. G., D'Almeida, V., Fietz, M., Giugliani, R., Hawley, S. M., Hendriksz, C. J., Hwu, W. L., Ketteridge, D., Lukacs, Z., Mendelsohn, N. J., Miller, N., Pasquali, M., Schenone, A., Schoonderwoerd, K., Winchester, B. & Harmatz, P., 2012, In: MOL GENET METAB. 106, 1, p. 73-82 1.

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

  8. Exploring the unique N-glycome of the opportunistic human pathogen Acanthamoeba.

    Schiller, B., Makrypidi, G., Razzazi-Fazeli, E., Paschinger, K., Walochnik, J. & Wilson, I. B. H., 2012, In: J BIOL CHEM. 287, 52, p. 43191-43204 52.

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

  9. Fibroblast growth factor 23 and calcium phosphate homeostasis after pediatric renal transplantation.

    Van Husen, M., Lehnhardt, A., Fischer, A-K., Brinkert, F., Loos, S., Oh, J. & Kemper, M. J., 2012, In: PEDIATR TRANSPLANT. 16, 5, p. 443-450 5.

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

  10. Gesundheitsbezogene Lebensqualität und psychische Gesundheit von kleinwüchsigen Kindern und Jugendlichen

    Quitman, J. H., Behncke, J., Dörr, H-G., Rolf, P. W., Wüsthof, A., Stahnke, N., Jakisch, B., Partsch, C-J., Nöker, M., Kuhnle-Krahl, U., Rohenkohl, A. C. & Bullinger, M., 2012, In: Z Med Psychol. 31, 3, p. 132-139 3.

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

  11. Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study

    Gramer, E., Reiter, C. & Gramer, G., 2012, In: EUR J OPHTHALMOL. 22, 1, p. 104-10 7 p.

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

  12. Glyceroluria and neonatal hemochromatosis.

    Barić, I., Zibar, K., Ćorić, M., Santer, R., Bonilla, S., Bilić, K., Buljević, A. D., Benjak, V., Fumić, K. & Whitington, P. F., 2012, In: J PEDIATR GASTR NUTR. 55, 4, p. 126-128 4.

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

  13. Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria

    Stéphenne, X., Debray, F. G., Smets, F., Jazouli, N., Sana, G., Tondreau, T., Menten, R., Goffette, P., Boemer, F., Schoos, R., Gersting, S. W., Najimi, M., Muntau, A. C., Goyens, P. & Sokal, E. M., 2012, In: CELL TRANSPLANT. 21, 12, p. 2765-70 6 p.

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

  14. High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.

    Thelen, M., Fehr, S., Schweizer, M., Braulke, T. & Galliciotti, G., 2012, In: J NEUROSCI RES. 90, 3, p. 568-574 3.

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

  15. High serum adiponectin concentration in children with chronic kidney disease.

    Möller, K., Dieterman, C., Herich, L., Klaassen, I., Kemper, M. J. & Müller-Wiefel, D. E., 2012, In: PEDIATR NEPHROL. 27, 2, p. 243-249 2.

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

  16. Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children: insights from the International Pediatric Peritoneal Dialysis Network Registry

    Schaefer, F., Borzych-Duzalka, D., Azocar, M., Munarriz, R. L., Sever, L., Aksu, N., Barbosa, L. S., Galan, Y. S., Xu, H., Coccia, P. A., Szabo, A., Wong, W., Salim, R., Vidal, E., Pottoore, S., Warady, B. A., IPPN investigators & Kemper, M. J., 2012, In: PERITON DIALYSIS INT. 32, 4, p. 399-409 11 p.

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

  17. Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?

    Beck, B. B., Habbig, S., Dittrich, K., Stippel, D., Kaul, I., Koerber, F., Goebel, H., Salido, E. C., Kemper, M. J., Meyburg, J. & Hoppe, B., 2012, In: NEPHROL DIAL TRANSPL. 27, 7, p. 2984-2989 7.

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

  18. Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?

    Blum, K. S., Hagel, C., Neuen-Jacob, E., Herkenrath, P., Fiehler, J., Kohlschütter, A., Lanfermann, H. & Ding, X-Q., 2012, In: J CHILD NEUROL. 27, 2, p. 229-233 2.

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

  19. Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome.

    Kemper, M. J., Gellermann, J., Habbig, S., Krmar, R. T., Dittrich, K., Jungraithmayr, T., Pape, L., Patzer, L., Billing, H., Weber, L., Pohl, M., Rosenthal, K., Rosahl, A., Müller-Wiefel, D. E. & Dötsch, J., 2012, In: NEPHROL DIAL TRANSPL. 27, 5, p. 1910-1915 5.

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

  20. [Long-term survival of preterm neonates].

    Singer, D., 2012, In: BUNDESGESUNDHEITSBLA. 55, 4, p. 568-575 4.

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

  21. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.

    Kollmann, K., Damme, M., Markmann, S., Morelle, W., Schweizer, M., Hermans-Borgmeyer, I., Röchert, A. K., Pohl, S., Lübke, T., Michalski, J-C., Käkelä, R., Walkley, S. U. & Braulke, T., 2012, In: BRAIN. 135, Pt 9, p. 2661-2675 Pt 9.

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

  22. Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5.

    Makrypidi, G., Damme, M., Müller-Loennies, S., Trusch, M., Schmidt, B., Schlüter, H., Heeren, J., Lübke, T., Saftig, P. & Braulke, T., 2012, In: MOL CELL BIOL. 32, 4, p. 774-782 4.

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

  23. Minimal change (steroid sensitive) nephrotic syndrome in children: new aspects on pathogenesis and treatment.

    Oh, J. & Kemper, M. J., 2012, In: MINERVA PEDIATR. 64, 2, p. 197-204 2.

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

  24. Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma

    Raas-Rothschild, A., Pohl, S. & Braulke, T., 2012, Lysosomal Storage Diseases: A Practical Guide. WileyBlackwell, London, p. 121-126 6 p.

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

  25. Mutation analysis in 54 propionic acidemia patients.

    Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 51-63 1.

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

  26. Neuronale Zeroidlipofuszinosen (NCL) - Metabolische Demenzkrankheiten im Kindesalter

    Schulz, A. & Kohlschütter, A., 2012, In: MONATSSCHR KINDERH. 160, p. 734-741 10 p.

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

  27. Outbreak of hemolytic uremic syndrome caused by E. coli O104:H4 in Germany: a pediatric perspective.

    Kemper, M. J. & Markus, J., 2012, In: PEDIATR NEPHROL. 27, 2, p. 161-164 2.

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

  28. Pancreatic carcinoma cell lines reflect frequency and variability of cancer stem cell markers in clinical tissue

    Bünger, S., Barow, M., Thorns, C., Freitag-Wolf, S., Danner, S., Tiede, S., Pries, R., Görg, S., Bruch, H-P., Roblick, U. J., Kruse, C. & Habermann, J. K., 2012, In: EUR SURG RES. 49, 2, p. 88-98 11 p.

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

  29. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

    Lehnhardt, A., Lama, A., Amann, K., Matejas, V., Zenker, M. & Kemper, M. J., 2012, In: PEDIATR NEPHROL. 27, 5, p. 865-868 5.

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

  30. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

    Cochat, P., Hulton, S-A., Acquaviva, C., Danpure, C. J., Daudon, M., Mario, D. M., Fargue, S., Groothoff, J., Harambat, J., Hoppe, B., Jamieson, N. V., Kemper, M. J., Mandrile, G., Marangella, M., Picca, S., Rumsby, G., Salido, E., Straub, M., Woerden, V., Christiaan, S. & OxalEurope, U., 2012, In: NEPHROL DIAL TRANSPL. 27, 5, p. 1729-1736 5.

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

  31. Propionic acidemia: neonatal versus selective metabolic screening.

    Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 41-49 1.

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

  32. Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.

    Steenhuis, P., Froemming, J., Reinheckel, T. & Storch, S., 2012, In: Biochim Biophys Acta. 1822, 10, p. 1617-1628 10.

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

  33. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

    van Rahden, V., Brand, K., Najm, J., Heeren, J., Heeren, J., Braulke, T., Kutsche, K. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 23, p. 5019-5038 23.

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

  34. The influence of gender and sexual hormones on incidence and outcome of chronic kidney disease.

    Kummer, S., von Gersdorff, G., Kemper, M. J. & Oh, J., 2012, In: PEDIATR NEPHROL. 27, 8, p. 1213-1219 8.

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

  35. Unerwartete Schulprobleme und Wesensveränderung

    Kohlschütter, A., Bley, A., Meyer-Osores, A. & Hartmann, M., 2012, In: Neuropäd Klin Prax. 11, 3, p. 126-127 3.

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

  36. Urinary proteome analysis to exclude severe vesicoureteral reflux.

    Drube, J., Schiffer, E., Lau, E., Petersen, C., Kirschstein, M., Kemper, M. J., Lichtinghagen, R., Ure, B., Mischak, H., Pape, L. & Ehrich, J. H. H., 2012, In: PEDIATRICS. 129, 2, p. 356-363 2.

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

  37. (Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation.

    Höcker, B., Böhm, S., Fickenscher, H., Küsters, U., Schnitzler, P., Pohl, M., John, U., Kemper, M. J., Fehrenbach, H., Wigger, M., Holder, M., Schröder, M., Feneberg, R., Köpf-Shakib, S. & Tönshoff, B., 2012, In: TRANSPL INT. 25, 7, p. 723-731 7.

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

  38. Zerebrale Bildgebung bei angeborenen Stoffwechselfehlern - Eine pädiatrische Annäherung

    Kohlschütter, A. & Löbel, U., 2012, In: MONATSSCHR KINDERH. 160, 8, p. 742-749 8.

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

  39. 2011

  40. Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex

    Vizoso Pinto, M. G., Pothineni, V. R., Haase, R., Woidy, M., Lotz-Havla, A. S., Gersting, S. W., Muntau, A. C., Haas, J., Sommer, M., Arvin, A. M. & Baiker, A., 02.12.2011, In: J PROTEOME RES. 10, 12, p. 5374-82 9 p.

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

  41. Thyrotropin-releasing hormone selectively stimulates human hair follicle pigmentation

    Gáspár, E., Nguyen-Thi, K. T., Hardenbicker, C., Tiede, S., Plate, C., Bodó, E., Knuever, J., Funk, W., Bíró, T. & Paus, R., 12.2011, In: J INVEST DERMATOL. 131, 12, p. 2368-77 10 p.

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

  42. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

    Groeschel, S., Kehrer, C., Engel, C., I Dali, C., Bley, A., Steinfeld, R., Grodd, W. & Krägeloh-Mann, I., 10.2011, In: J INHERIT METAB DIS. 34, 5, p. 1095-102 8 p.

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

  43. Stimulation of the calcium-sensing receptor stabilizes the podocyte cytoskeleton, improves cell survival, and reduces toxin-induced glomerulosclerosis

    Oh, J., Beckmann, J., Bloch, J., Hettgen, V., Mueller, J., Li, L., Hoemme, M., Gross, M-L., Penzel, R., Mundel, P., Schaefer, F. & Schmitt, C. P., 01.09.2011, In: KIDNEY INT. 80, 5, p. 483-92 10 p.

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

  44. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

    Staudigl, M., Gersting, S. W., Danecka, M. K., Messing, D. D., Woidy, M., Pinkas, D., Kemter, K. F., Blau, N. & Muntau, A. C., 01.07.2011, In: HUM MOL GENET. 20, 13, p. 2628-41 14 p.

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

  45. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

    Muschol, N., Pohl, S., Meyer, A., Gal, A., Ullrich, K. & Braulke, T., 07.2011, In: AM J MED GENET A. 155A, 7, p. 1634-1639 6 p., 7.

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

  46. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

    du Moulin, M., Nürnberg, P., Crow, Y. J. & Rutsch, F., 28.06.2011, In: P NATL ACAD SCI USA. 108, 26, p. E232; author reply E233

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

  47. Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

    Lindner, M., Gramer, G., Haege, G., Fang-Hoffmann, J., Schwab, K. O., Tacke, U., Trefz, F. K., Mengel, E., Wendel, U., Leichsenring, M., Burgard, P. & Hoffmann, G. F., 20.06.2011, In: ORPHANET J RARE DIS. 6, p. 44

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

  48. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)

    Burton, B. K., Whiteman, D. A. H., HOS Investigators & Muschol, N. M., 01.06.2011, In: MOL GENET METAB. 103, 2, p. 113-20 8 p.

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

  49. Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection.

    Kummer, S., Sagir, A., Pandey, S., Feldkötter, M., Habbig, S., Körber, F., Ney, D., Hoppe, B., Häussinger, D., Mayatepek, E. & Oh, J., 05.2011, In: PEDIATR NEPHROL. 26, 5, p. 725-731 5.

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

  50. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns

    Ensenauer, R., Fingerhut, R., Maier, E. M., Polanetz, R., Olgemöller, B., Röschinger, W. & Muntau, A. C., 04.2011, In: CLIN CHEM. 57, 4, p. 623-6 4 p.

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

  51. IL3 variant on chromosomal region 5q31-33 and protection from recurrent malaria attacks

    Meyer, C. G., Calixto Fernandes, M. H., Intemann, C. D., Kreuels, B., Kobbe, R., Kreuzberg, C., Ayim, M., Ruether, A., Loag, W., Ehmen, C., Adjei, S., Adjei, O., Horstmann, R. D. & May, J., 15.03.2011, In: HUM MOL GENET. 20, 6, p. 1173-81 9 p.

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

  52. Effect of kidney disease on glucose handling (including genetic defects)

    Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13

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

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