Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2004

  2. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

    Hoffmann, G. F., von Kries, R., Klose, D., Lindner, M., Schulze, A., Muntau, A. C., Röschinger, W., Liebl, B., Mayatepek, E. & Roscher, A. A., 02.2004, In: EUR J PEDIATR. 163, 2, p. 76-80 5 p.

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

  3. Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review

    Blohm, M. E. G. & Göbel, U., 01.2004, In: EUR J PEDIATR. 163, 1, p. 1-6 6 p.

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

  4. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

    Ensenauer, R., Vockley, J., Willard, J-M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H-G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., 2004, In: AM J HUM GENET. 75, 6, p. 1136-1142 6.

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

  5. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

    Gordon, M. M., Brada, N., Remacha, A., Badell, I., Elisabeth, D. R., Baiget, M., Santer, R., Quadros, E. V., Rothenberg, S. P. & Alpers, D. H., 2004, In: HUM MUTAT. 23, 1, p. 85-91 1.

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

  6. Animal models for glutaryl-CoA dehydrogenase deficiency

    Koeller, D. M., Sauer, S., Wajner, M., de Mello, C. F., Goodman, S. I., Woontner, M., Mühlhausen, C., Okun, J. G. & Kölker, S., 2004, In: J INHERIT METAB DIS. 27, 6, p. 813-8 6 p.

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

  7. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

    Peduto, A., Spada, M., Alluto, A., La Dolcetta, M., Ponzone, A. & Santer, R., 2004, In: J INHERIT METAB DIS. 27, 2, p. 279-280 2.

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

  8. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

    Stephan, T., Cantz, M., Raas-Rothschild, A., Muschol, N., Bürger, F., Ullrich, K. & Braulke, T., 2004, In: HUM MUTAT. 24, 6, p. 535 6.

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

  9. Aprataxin mutations are a rare cause of early onset ataxia in Germany.

    Habeck, M., Zühlke, C., Bentele, K. H. P., Unkelbach, S., Kress, W., Bürk, K., Schwinger, E. & Hellenbroich, Y., 2004, In: J NEUROL. 251, 5, p. 591-594 5.

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

  10. [Aseptic meningitis after intrathecal infusion of a parenteral nutrition solution: examples of rare malpositions of central venous catheters in preterm neonates]

    Wirbelauer, J., Singer, D., Darge, K. & Speer, C. P., 2004, In: Z GEBURTSH NEONATOL. 208, 2, p. 63-67 2.

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

  11. BIOKID: randomized controlled trial comparing bicarbonate and lactate buffer in biocompatible peritoneal dialysis solutions in children [ISRCTN81137991].

    Nau, B., Schmitt, C. P., Almeida, M., Arbeiter, K., Ardissino, G., Bonzel, K. E., Edefonti, A., Fischbach, M., Haluany, K., Misselwitz, J., Kemper, M. J., Rönnholm, K., Wygoda, S., Schaefer, F. & Group, E. P. P. D. S., 2004, In: BMC NEPHROL. 5, p. 14

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

  12. Catheter visualization with resonant markers at MR imaging-guided deployment of endovascular stents in swine.

    Kuehne, T., Weiss, S., Brinkert, F., Weil, J., Yilmaz, S., Schmitt, B., Ewert, P., Lange, P. & Gutberlet, M., 2004, In: RADIOLOGY. 233, 3, p. 774-780 3.

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

  13. Health-related quality of life and psychosocial adjustment in steroid-sensitive nephrotic syndrome.

    Rüth, E-M., Landolt, M. A., Neuhaus, T. J. & Kemper, M. J., 2004, In: J PEDIATR-US. 145, 6, p. 778-783 6.

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

  14. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

    Schulz, A., Dhar, S., Rylova, S., Dbaibo, G., Alroy, J., Hagel, C., Artacho, I., Kohlschütter, A., Lin, S. & Boustany, R-M., 2004, In: ANN NEUROL. 56, 3, p. 342-350 3.

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

  15. [Infant botulism and sudden infant death syndrome]

    Bartram, U. & Singer, D., 2004, In: KLIN PADIATR. 216, 1, p. 26-30 1.

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

  16. In vivo safe catheter visualization and slice tracking using an optically detunable resonant marker.

    Weiss, S., Kuehne, T., Brinkert, F., Krombach, G., Katoh, M., Schaeffter, T., Guenther, R. W. & Buecker, A., 2004, In: MAGN RESON MED. 52, 4, p. 860-868 4.

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

  17. Latex allergy in children with urological malformation and chronic renal failure.

    Spartà, G., Kemper, M. J., Gerber, A. C., Goetschel, P. & Neuhaus, T. J., 2004, In: J UROLOGY. 171, 4, p. 1647-1649 4.

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

  18. Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

    Scholl-Bürgi, S., Santer, R. & Ehrich, J. H. H., 2004, In: NEPHROL DIAL TRANSPL. 19, 9, p. 2394-2396 9.

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

  19. Low-dose immunosuppression reduces the incidence of post-transplant lymphoproliferative disease in pediatric liver graft recipients.

    Ganschow, R., Schulz, T., Meyer, T., Broering, D. C. & Burdelski, M., 2004, In: J PEDIATR GASTR NUTR. 38, 2, p. 198-203 2.

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

  20. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

    Mühlhausen, C., Hoffmann, G. F., Strauss, K. A., Kölker, S., Okun, J. G., Greenberg, C. R., Naughten, E. R. & Ullrich, K., 2004, In: J INHERIT METAB DIS. 27, 6, p. 885-92 8 p.

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

  21. Metabolic adaptation to hypoxia: cost and benefit of being small.

    Singer, D., 2004, In: RESP PHYSIOL NEUROBI. 141, 3, p. 215-228 3.

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

  22. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

    Tsiakas, K. K., Steinfeld, R., Storch, S., Ezaki, J., Lukacs, Z., Kominami, E., Kohlschütter, A., Ullrich, K. & Braulke, T., 2004, In: GLYCOBIOLOGY. 14, 4, 4.

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

  23. Nephrolithiasis in a child with glucose-galactose malabsorption.

    Tasic, V., Slaveska, N., Blau, N. & Santer, R., 2004, In: PEDIATR NEPHROL. 19, 2, p. 244-246 2.

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

  24. One hundred thirty-two consecutive pediatric liver transplants without hospital mortality: lessons learned and outlook for the future.

    Broering, D. C., Kim, J-S., Mueller, T., Fischer, L., Ganschow, R., Bicak, T., Mueller, L., Hillert, C., Wilms, C., Hinrichs, B., Helmke, K., Pothmann, W., Burdelski, M. & Rogiers, X., 2004, In: ANN SURG. 240, 6, p. 1002-1012 6.

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

  25. Recurrence of severe steroid dependency in cyclosporin A-treated childhood idiopathic nephrotic syndrome.

    Kemper, M. J., Kuwertz-Broeking, E., Bulla, M., Müller-Wiefel, D. E. & Neuhaus, T. J., 2004, In: NEPHROL DIAL TRANSPL. 19, 5, p. 1136-1141 5.

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

  26. Short- and long-term results of liver transplantation in infants aged less than 6 months.

    Grabhorn, E., Schulz, A., Helmke, K., Hinrichs, B., Rogiers, X., Broering, D. C., Burdelski, M. & Ganschow, R., 2004, In: TRANSPLANTATION. 78, 2, p. 235-241 2.

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

  27. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

    Ruf, R. G., Xu, P-X., Silvius, D., Otto, E. A., Beekmann, F., Muerb, U. T., Kumar, S., Neuhaus, T. J., Kemper, M. J., Raymond, R. M., Brophy, P. D., Berkman, J., Gattas, M., Hyland, V., Ruf, E-M., Schwartz, C., Chang, E. H., Smith, R. J. H., Stratakis, C. A., Weil, D., Petit, C. & Hildebrandt, F., 2004, In: P NATL ACAD SCI USA. 101, 21, p. 8090-8095 21.

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

  28. Split liver transplantation: past, present and future.

    Kim, J. S., Broering, D. C., Tustas, R. Y., Fischer, L., Ganschow, R., Burdelski, M. & Rogiers, X., 2004, In: PEDIATR TRANSPLANT. 8, 6, p. 644-648 6.

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

  29. The boy with massive glucosuria.

    Sarkissian, A., Santer, R., Steinmann, B., Amaryan, G. & Leumann, E., 2004, In: NEPHROL DIAL TRANSPL. 19, 5, p. 1319-1320 5.

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

  30. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

    Muschol, N., Storch, S., Ballhausen, D., Beesley, C., Westermann, J-C., Gal, A., Ullrich, K., Hopwood, J. J., Winchester, B. & Braulke, T., 2004, In: HUM MUTAT. 23, 6, p. 559-566 6.

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

  31. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

    Meissner, T., Mayatepek, E., Kinner, M. & Santer, R., 2004, In: CLIN CHIM ACTA. 341, 1-2, p. 23-26 1-2.

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

  32. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I

    Mühlhausen, C., Ergün, S., Strauss, K. A., Koeller, D. M., Crnic, L., Woontner, M., Goodman, S. I., Ullrich, K. & Braulke, T., 2004, In: J INHERIT METAB DIS. 27, 6, p. 829-34 6 p.

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

  33. 2003

  34. Associations between total serum IgE levels and the 6 potentially functional 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., 01.08.2003, In: J ALLERGY CLIN IMMUN. 112, 2, p. 382-8 7 p.

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

  35. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

    Taanman, J-W., Muddle, J. R. & Muntau, A. C., 01.08.2003, In: HUM MOL GENET. 12, 15, p. 1839-45 7 p.

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

  36. Hair artefacts in the head and neck region

    Scheifele, C., Lemke, A-J. & Reichart, P. A., 01.07.2003, In: DENTOMAXILLOFAC RAD. 32, 4, p. 255-7 3 p.

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

  37. The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis

    Muntau, A. C., Roscher, A. A., Kunau, W-H. & Dodt, G., 07.2003, In: EUR J CELL BIOL. 82, 7, p. 333-42 10 p.

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

  38. Pacemaker channel dysfunction in a patient with sinus node disease

    Schulze-Bahr, E., Neu, A., Friederich, P., Kaupp, U. B., Breithardt, G., Pongs, O. & Isbrandt, D., 01.05.2003, In: J CLIN INVEST. 111, 10, p. 1537-45 9 p.

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

  39. Regulation of EMAP II by hypoxia

    Matschurat, S., Knies, U. E., Person, V., Fink, L., Stoelcker, B., Ebenebe, C., Behrensdorf, H. A., Schaper, J. & Clauss, M., 01.2003, In: AM J PATHOL. 162, 1, p. 93-103 11 p.

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

  40. An 8-year old boy with recurrent macroscopic hematuria, weight loss, and kidney failure.

    Kemper, M. J., Bergsträsser, E., Pawlik, H., Gaspert, A. & Neuhaus, T. J., 2003, In: J PEDIATR-US. 142, 3, p. 342-345 3.

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

  41. [An approach for safe visualization and localization of catheter during MR-guided intravascular procedures]

    Weiss, S., Schaeffter, T., Brinkert, F., Kühne, T. & Bücker, A., 2003, In: Z MED PHYS. 13, 3, p. 172-176 3.

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

  42. A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells.

    Partanen, S., Storch, S., Löffler, H-G., Hasilik, A., Tyynelä, J. & Braulke, T., 2003, In: BIOCHEM J. 369, 1, p. 55-62 1.

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

  43. Basiliximab monotherapy following B-cell lymphoma after pediatric liver transplantation and anti-CD20 therapy.

    Venzke, A., Ganschow, R., Grabhorn, E., Rogiers, X. & Burdelski, M., 2003, In: PEDIATR TRANSPLANT. 7, 5, p. 404-407 5.

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

  44. Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndrome.

    Kemper, M. J., Meyer-Jark, T., Lilova, M. & Müller-Wiefel, D. E., 2003, In: CLIN NEPHROL. 60, 4, p. 242-247 4.

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

  45. Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.

    von Schnakenburg, C., Rumsby, G., Hoppe, B., Latta, K. & Kemper, M. J., 2003, In: PEDIATR NEPHROL. 18, 5, p. 482-484 5.

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

  46. Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)

    Muntau, A. C., Roscher, A. A., Kunau, W. H. & Dodt, G., 2003, In: ADV EXP MED BIOL. 544, p. 221-4 4 p.

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

  47. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

    Santer, R., Hillebrand, G., Steinmann, B. & Schaub, J., 2003, In: GASTROENTEROLOGY. 124, 1, p. 34-39 1.

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

  48. Intrauterine regression of an adrenal mass.

    Girschick, G., Singer, D., Trusen, A., Dietl, J. & Müller, T., 2003, In: ULTRASOUND OBST GYN. 21, 3, p. 307-309 3.

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

  49. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

    Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.

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

  50. Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

    Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.

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

  51. Multicenter evaluation of the performance characteristics of the NucliSens HIV-1 QT assay used for quantitation of human immunodeficiency virus type 1 RNA.

    Ginocchio, C. C., Kemper, M. J., Stellrecht, K. A. & Witt, D. J., 2003, In: J CLIN MICROBIOL. 41, 1, p. 164-173 1.

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

  52. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

    Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S. & Braulke, T., 2003, In: HUM GENET. 112, 2, p. 190-194 2.

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

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