Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2015

  2. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1041-1057

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

  3. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Cazorla, A. G., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1059-1074

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

  4. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

    Köhler, C., Heyer, C., Hoffjan, S., Stemmler, S., Lücke, T., Thiels, C., Kohlschütter, A., Löbel, U., Horvath, R., Kleinle, S., Benet-Pagès, A. & Abicht, A., 29.10.2015, In: MOL CELL PROBE. 29, 5, p. 319-322

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

  5. Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.

    Blanz, J., Zunke, F., Markmann, S., Damme, M., Braulke, T., Saftig, P. & Schwake, M., 10.2015, In: TRAFFIC. 16, 10, p. 1127-1136

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

  6. Preoperative anemia is associated with adverse outcome in patients with urothelial carcinoma of the bladder following radical cystectomy

    Gierth, M., Mayr, R., Aziz, A., Krieger, S., Wullich, B., Pycha, A., Lodde, M., Salvadori, U., Bründl, J., Fritsche, H. M., Hofstädter, F., Pawlik, M. T., Otto, W., May, M., Burger, M. & Denzinger, S., 10.2015, In: J CANCER RES CLIN. 141, 10, p. 1819-26 8 p.

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

  7. Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"

    Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 10.2015, In: BBA-MOL BASIS DIS. 1852, 10 Pt B, p. 2312-5 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  8. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

    Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., 10.2015, In: AM J MED GENET A. 167A, 10, p. 2272-2281 10 p.

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

  9. Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): results from a prospective cohort study

    Carbajal, R., Eriksson, M., Courtois, E., Boyle, E., Avila-Alvarez, A., Andersen, R. D., Sarafidis, K., Polkki, T., Matos, C., Lago, P., Papadouri, T., Montalto, S. A., Ilmoja, M-L., Simons, S., Tameliene, R., van Overmeire, B., Berger, A., Dobrzanska, A., Schroth, M., Bergqvist, L., Lagercrantz, H., Anand, K. J. S., EUROPAIN Survey Working Group & Deindl, P., 10.2015, In: LANCET RESP MED. 3, 10, p. 796-812 17 p.

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

  10. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In: AM J HUM GENET. 97, 3, p. 493-500 8 p.

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

  11. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

    Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides-Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M. & Baumgartner, M. R., 09.2015, In: J INHERIT METAB DIS. 38, 5, p. 957-967 10 p.

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

  12. Homoarginine supplementation improves blood glucose in diet-induced obese mice

    Stockebrand, M., Hornig, S., Neu, A., Atzler, D., Cordts, K., Böger, R. H., Isbrandt, D., Schwedhelm, E. & Choe, C-U., 09.2015, In: AMINO ACIDS. 47, 9, p. 1921-9 9 p.

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

  13. Response to cyclosporine in steroid-resistant nephrotic Syndrome: discontinuation is possible

    Klaassen, I. A., Özgören, B., Sadowski, C. E., Möller, K., Van Husen, M., Lehnhardt, A., Timmermann, K., Freudenberg, F., Helmchen, U., Oh, J. & Kemper, M. J., 09.2015, In: PEDIATR NEPHROL. 30, 9, p. 1477-1483 6 p.

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

  14. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

    Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W-L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H., Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Bürgi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., 20.08.2015, In: ORPHANET J RARE DIS. 10, p. Art. 99

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

  15. Rat renal transplant model for mixed acute humoral and cellular rejection: Weak correlation of serum cytokines/chemokines with intragraft changes

    Lemke, A., Noriega, M. D. L. M., Röske, A. M., Kemper, M. J., Nashan, B., Falk, C. S. & Koch, M., 20.08.2015, In: TRANSPL IMMUNOL. 33, 2, p. 95-102

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

  16. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

    Varga, R-E., Khundadze, M., Damme, M., Nietzsche, S., Hoffmann, B., Stauber, T., Koch, N., Hennings, C., Franzka, P., Huebner, A. K., Kessels, M. M., Biskup, C., Jentsch, T. J., Qualmann, B., Braulke, T., Kurth, I., Beetz, C. & Hübner, C. A., 18.08.2015, In: PLOS GENET. 11 , 8, p. e1005454; 1-20

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

  17. Kurzlehrbuch Pädiatrie

    Muntau, A., 08.2015, Kurzlehrbuch Pädiatrie. 1 ed. München: Urban & Fischer, p. 1-479 480 p.

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

  18. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

    Bergholz, R., Kohlschütter, A., Schulz, A., Hubert, W. & Rüther, K., 08.2015, In: GRAEF ARCH CLIN EXP. 253, 8, p. 1245-1250 5 p.

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

  19. Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity

    Reitzle, L., Maier, B., Stojanov, S., Teupser, D., Muntau, A. C., Vogeser, M. & Gersting, S. W., 08.2015, In: CLIN BIOCHEM. 48, 12, p. 781-7 7 p.

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

  20. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

    Klünder, S., Heeren, J., Markmann, S., Santer, R., Braulke, T. & Pohl, S., 08.2015, In: J LIPID RES. 56, 8, p. 1625-32 8 p.

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

  21. A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

    Fazeli, W., Kaczmarek, S., Kirschstein, M. & Santer, R., 28.07.2015, In: BMC GASTROENTEROL. 15, p. Art. 90

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

  22. Very low birth-weight as a risk factor for postpartum depression four to six weeks postbirth in mothers and fathers: Cross-sectional results from a controlled multicentre cohort study.

    Helle, N. J., Barkmann, C., Bartz-Seel, J., Diehl, T., Ehrhardt, S., Hendel, A., Nestoriuc, Y., Schulte-Markwort, M., Dr. von der Wense, A. & Bindt, C., 15.07.2015, In: J AFFECT DISORDERS. 180, p. 154-161 8 p.

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

  23. Association of the transcobalamin II gene 776C → G polymorphism with Alzheimer's type dementia: dependence on the 5, 10-methylenetetrahydrofolate reductase 1298A → C polymorphism genotype

    Cascalheira, J. F., Gonçalves, M., Barroso, M., Castro, R., Palmeira, M., Serpa, A., Dias-Cabral, A. C., Domingues, F. C. & Almeida, S., 07.2015, In: ANN CLIN BIOCHEM. 52, Pt 4, p. 448-55 8 p.

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

  24. Depressed calcium cycling contributes to lower ischemia tolerance in hearts of estrogen-deficient rats

    Dunay, G. A., Paragi, P., Sára, L., Ács, N., Balázs, B., Ágoston, V., Répás, C., Ivanics, T. & Miklós, Z., 07.2015, In: MENOPAUSE. 22, 7, p. 773-82 10 p.

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

  25. Re: Mumps vaccine effectiveness and risk factors for disease in households during an outbreak in New York City

    Rau, C. J. & Danovaro-Holliday, M. C., 26.06.2015, In: VACCINE. 33, 29, p. 3273

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

  26. Angeborene Herzfehler – Hypoplastisches Linksherzsyndrom (HLHS): Interdisziplinäres Management in Geburtshilfe und Neonatologie

    Gottschalk, U., Diemert, A., Sachweh, J. S., Singer, D. & Hecher, K., 06.2015, In: Z GEBURTSH NEONATOL. 219, 3, p. 113-117 5 p.

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

  27. A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

    Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., Somers, M. J., Tan, W., Shril, S., Fessi, I., Lifton, R. P., Bockenhauer, D., El-Desoky, S., Kari, J. A., Zenker, M., Kemper, M. J., Mueller, D., Fathy, H. M., Soliman, N. A., Hildebrandt, F. & the SRNS Study Group, 06.2015, In: J AM SOC NEPHROL. 26, 6, p. 1279-1289 10 p.

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

  28. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Di Fruscio, G., Schulz, A., De Cegli, R., Savarese, M., Mutarelli, M., Parenti, G., Banfi, S., Braulke, T., Nigro, V. & Ballabio, A., 06.2015, In: AUTOPHAGY. 11, 6, p. 928-38 11 p.

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

  29. POLR3A and POLR3B Mutations in Unclassified Hypomyelination

    Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., van der Knaap, M. S., Bernard, G. & Wolf, N. I., 06.2015, In: NEUROPEDIATRICS. 46, 3, p. 221-7 8 p.

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

  30. Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1

    Lehnhardt, A., Karnatz, N., Ahlenstiel-Grunow, T., Benz, K., Benz, M. R., Budde, K., Büscher, A. K., Fehr, T., Feldkötter, M., Graf, N., Höcker, B., Jungraithmayr, T., Klaus, G., Koehler, B., Konrad, M., Kranz, B., Montoya, C. R., Müller, D., Neuhaus, T. J., Oh, J., Pape, L., Pohl, M., Royer-Pokora, B., Querfeld, U., Schneppenheim, R., Staude, H., Spartà, G., Timmermann, K., Wilkening, F., Wygoda, S., Bergmann, C. & Kemper, M. J., 07.05.2015, In: CLIN J AM SOC NEPHRO. 10, 5, p. 825-831

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

  31. Persistierende pulmonale Hypertonie des Neugeborenen und chronisch progressive pulmonale Hypertonie im ersten Lebensjahr

    Giagnorio, R., Deindl, P., Brinkmann, E., Ehrenberg, K., Jonigk, D. & Hansmann, G., 01.05.2015, In: Kinder- und Jugendmedizin. 15, 05, p. 362-373 10 p.

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

  32. Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome

    Scharf, M., Miske, R., Heidenreich, F., Giess, R., Landwehr, P., Blöcker, I-M., Begemann, N., Denno, Y., Tiede, S., Dähnrich, C., Schlumberger, W., Unger, M., Teegen, B., Stöcker, W., Probst, C. & Komorowski, L., 21.04.2015, In: NEUROLOGY. 84, 16, p. 1673-9 7 p.

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

  33. Phenotypic and molecular insights into CASK-related disorders in males

    Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44

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

  34. Successful detoxification and liver transplantation in a severe poisoning with a chemical wood preservative containing chromium, copper, and arsenic

    Breuer, C., Oh, J., Nolkemper, D., Achilles, E. G., Fischer, L., Eglite, I., Güsmer, C., Heitland, P., Koester, H. D., Brinkert, F., Singer, D. & Blohm, M., 01.04.2015, In: TRANSPLANTATION. 99, 4, p. e29-30

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  35. Brainstem disconnection: two additional patients and expansion of the phenotype

    Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., Doherty, D. & Boltshauser, E., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 139-44 6 p.

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

  36. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

    Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., Smeitink, J. A. M., Morava, E., Kozicz, T., Wevers, R. A., Wolf, N. I. & Willemsen, M. A., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 98-103 6 p.

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

  37. Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

    Trautmann, A., Bodria, M., Ozaltin, F., Gheisari, A., Melk, A., Azocar, M., Anarat, A., Caliskan, S., Emma, F., Gellermann, J., Oh, J., Baskin, E., Ksiazek, J., Remuzzi, G., Erdogan, O., Akman, S., Dusek, J., Davitaia, T., Özkaya, O., Papachristou, F., Firszt-Adamczyk, A., Urasinski, T., Testa, S., Krmar, R. T., Hyla-Klekot, L., Pasini, A., Özcakar, Z. B., Sallay, P., Cakar, N., Galanti, M., Terzic, J., Aoun, B., Caldas Afonso, A., Szymanik-Grzelak, H., Lipska, B. S., Schnaidt, S., Schaefer, F. & PodoNet Consortium, 04.2015, In: CLIN J AM SOC NEPHRO. 10, 4, p. 592-600 9 p.

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

  38. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation

    Hermann, K., Varwig-Janßen, D., Budnik, L. T., Nordholt, G., Reinshagen, K., Oh, J., Santer, R. & Mühlhausen, C., 04.2015, In: MONATSSCHR KINDERH. 163, 6, p. 570-574

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

  39. Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

    Trefz, F., Lichtenberger, O., Blau, N., Muntau, A. C., Feillet, F., Bélanger-Quintana, A., van Spronsen, F. & Munafo, A., 04.2015, In: MOL GENET METAB. 114, 4, p. 564-9 6 p.

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

  40. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

    Velho, R. V., De Pace, R., Klünder, S., Sperb-Ludwig, F., Lourenço, C. M., Schwartz, I. V. D., Braulke, T. & Pohl, S., 18.03.2015, In: HUM MOL GENET. 24, 12, p. 3497–3505

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

  41. Lrp1/LDL receptor play critical roles in mannose 6-phosphate-independent lysosomal enzyme targeting

    Markmann, S., Thelen, M., Cornils, K., Schweizer, M., Brocke-Ahmadinejad, N., Willnow, T., Heeren, J., Gieselmann, V., Braulke, T. & Kollmann, K., 18.03.2015, In: TRAFFIC.

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

  42. Ethical issues with artificial nutrition of children with degenerative brain diseases

    Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 17.03.2015, In: BBA-MOL BASIS DIS. 1852, 7, p. 1253-1256 4 p.

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

  43. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

    Danecka, M. K., Woidy, M., Zschocke, J., Feillet, F., Muntau, A. C. & Gersting, S. W., 03.2015, In: J MED GENET. 52, 3, p. 175-185 11 p.

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

  44. Long-Term Clinical Relevance of De Novo Donor-Specific Antibodies After Pediatric Liver Transplantation

    Grabhorn, E., Binder, T. M., Obrecht, D., Brinkert, F., Lehnhardt, A., Herden, U., Peine, S., Nashan, B., Ganschow, R. & Briem-Richter, A., 20.02.2015, In: TRANSPLANTATION. 99, 9, p. 1876-1881

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

  45. Hippocampal synaptic connectivity in phenylketonuria

    Horling, K., Schlegel, G., Schulz, S., Vierk, R., Ullrich, K., Santer, R. & Rune, G., 15.02.2015, In: HUM MOL GENET. 4, 24, p. 1007-1018

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

  46. Markers of bone metabolism are affected by renal function and growth hormone therapy in children with chronic kidney disease

    Doyon, A., Fischer, D-C., Bayazit, A. K., Canpolat, N., Duzova, A., Sözeri, B., Bacchetta, J., Balat, A., Büscher, A., Candan, C., Cakar, N., Donmez, O., Dusek, J., Heckel, M., Klaus, G., Mir, S., Özcelik, G., Sever, L., Shroff, R., Vidal, E., Wühl, E., Gondan, M., Melk, A., Querfeld, U., Haffner, D., Schaefer, F. & 4C Study Consortium, 06.02.2015, In: PLOS ONE. 10, 2, p. Art. e0113482

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

  47. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

    Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., Lücke, T., Õunap, K., Zordania, R., Yaplito-Lee, J., van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., de Brouwer, A. P. M., Prokisch, H., Katsanis, N. & Wevers, R. A., 05.02.2015, In: AM J HUM GENET. 96, 2, p. 245-57 13 p.

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

  48. A novel mechanism of bacterial toxin transfer within host blood cell-derived microvesicles

    Ståhl, A., Arvidsson, I., Johansson, K. E., Chromek, M., Rebetz, J., Loos, S., Kristoffersson, A-C., Békássy, Z. D., Mörgelin, M. & Karpman, D., 02.2015, In: PLOS PATHOG. 11, 2, p. e1004619

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

  49. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

    Hendriksz, C. J., Giugliani, R., Harmatz, P., Mengel, E., Guffon, N., Valayannopoulos, V., Parini, R., Hughes, D., Pastores, G. M., Lau, H. A., Al-Sayed, M. D., Raiman, J., Yang, K., Mealiffe, M., Haller, C. & STRIVE Investigators, 02.2015, In: MOL GENET METAB. 114, 2, p. 178-85 8 p.

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

  50. Near-normal values of extravascular lung water in children

    Nusmeier, A., Cecchetti, C., Blohm, M., Lehman, R., van der Hoeven, J. & Lemson, J., 02.2015, In: PEDIATR CRIT CARE ME. 16, 2, p. E28-E33

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

  51. High B-cell activating factor is not associated with worse 3-year graft outcome in blood group-incompatible kidney transplantation with rituximab induction

    Lehnhardt, A. M., Strecker, M., Eiermann, T., Marget, M., Thaiss, F., Nashan, B. & Koch, M., 27.01.2015, In: CLIN TRANSPLANT.

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

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