Department of Pediatrics

Publications

  1. 2024
  2. Comparative analysis of artificial intelligence and expert assessments in detecting neonatal procedural pain

    Giordano, V., Luister, A., Vettorazzi, E., Wonka, K., Pointner, N., Steinbauer, P., Wagner, M., Berger, A., Singer, D. & Deindl, P., 02.09.2024, In: SCI REP-UK. 14, 1, 20374.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. Hemodiafiltration for children with stage 5 chronic kidney disease: technical aspects and outcomes

    Ahlmann, C., Stronach, L., Waters, K., Walker, K., Oh, J., Schmitt, C. P., Ranchin, B. & Shroff, R., 09.2024, In: PEDIATR NEPHROL. 39, 9, p. 2611-2626 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. Complex structural variation and nonsense variant in trans cause VPS50-related disorder

    Hecher, L., Gorski-Alberts, E., Begemann, M., Herwig, J., Lausberg, E., Hillebrand, G., Volk, A. E., Kurth, I., Kraft, F. & Kutsche, K., 29.08.2024, In: J MED GENET. 61, 9, p. 833-838 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. Autoantibodies Targeting Nephrin in Podocytopathies

    Hengel, F. E., Dehde, S., Lassé, M., Zahner, G., Seifert, L., Schnarre, A., Kretz, O., Demir, F., Pinnschmidt, H. O., Grahammer, F., Lucas, R., Mehner, L. M., Zimmermann, T., Billing, A. M., Oh, J., Mitrotti, A., Pontrelli, P., Debiec, H., Dossier, C., Colucci, M., Emma, F., Smoyer, W. E., Weins, A., Schaefer, F., Alachkar, N., Diemert, A., Hogan, J., Hoxha, E., Wiech, T., Rinschen, M. M., Ronco, P., Vivarelli, M., Gesualdo, L., Tomas, N. M., Huber, T. B. & International Society of Glomerular Disease, 01.08.2024, In: NEW ENGL J MED. 391, 5, p. 422-433 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  6. Favorable Outcome After Single-kidney Transplantation From Small Donors in Children: A Match-controlled CERTAIN Registry Study

    Schild, R., Carvajal Abreu, K., Büscher, A., Kanzelmeyer, N., Lezius, S., Krupka, K., Weitz, M., Prytula, A., Printza, N., Berta, L., Saygılı, S. K., Sellier-Leclerc, A-L., Spartà, G., Marks, S. D., König, S., Topaloglu, R., Klaus, G., Weber, S., Oh, J., Herden, U., Carraro, A., Dello Strologo, L., Ariceta, G., Hoyer, P., Tönshoff, B. & Pape, L., 01.08.2024, In: TRANSPLANTATION. 108, 8, p. 1793-1801 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome

    Fritsch, L-M., Reinshagen, K., Apostolidou, S., Singer, D., Peters, U., de Sousa, M. T., Herrmann, J. & Deindl, P., 08.2024, In: Z GEBURTSH NEONATOL. 228, 4, p. 394-395 2 p.

    Research output: SCORING: Contribution to journalCase reportResearchpeer-review

  8. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T-C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C., Weinhold, N., Suter, A-A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C-E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Basin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A-M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., 08.2024, In: NAT GENET. 56, 8, p. 1644-1653 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared to a natural history cohort

    Gaur, P., Gissen, P., Biswas, A., Mankad, K., Sudhakar, S., D'Arco, F., Schulz, A., Fiehler, J., Sedlacik, J. & Löbel, U., 08.07.2024, In: AM J NEURORADIOL.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy

    Huang, W. C., Ohnsman, C. M., Atiskova, Y., Falabella, P., Spitzer, M. S., Schulz, A. & Dulz, S., 01.07.2024, In: INVEST OPHTH VIS SCI. 65, 8, p. 45

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life

    Steffens, P., Weiss, D., Perez, A., Appel, M., Weber, P., Weiss, C., Stoltenburg, C., Ehinger, U., von der Hagen, M., Schallner, J., Claussen, B., Lode, I., Hahn, A., Schuler, R., Ruß, L., Ziegler, A., Denecke, J. & Johannsen, J., 07.2024, In: EUR J PAEDIATR NEURO. 51, p. 17-23 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

    Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R., van Gassen, K. L. I., Holwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 06.06.2024, In: AM J HUM GENET. 111, 6, p. 1206-1221 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. Impact of neonatal pain and opiate administration in animal models: A meta-analysis concerning pain threshold

    Steinbauer, P., Lisy, T., Monje, F. J., Chwala, E., Wildner, B., Schned, H., Deindl, P., Berger, A., Giordano, V. & Olischar, M., 06.2024, In: EARLY HUM DEV. 193, p. 106014

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  14. Personalized bacteriophage therapy outcomes for 100 consecutive cases: a multicentre, multinational, retrospective observational study

    Pirnay, J-P., Djebara, S., Steurs, G., Griselain, J., Cochez, C., De Soir, S., Glonti, T., Spiessens, A., Vanden Berghe, E., Green, S., Wagemans, J., Lood, C., Schrevens, E., Chanishvili, N., Kutateladze, M., de Jode, M., Ceyssens, P-J., Draye, J-P., Verbeken, G., De Vos, D., Rose, T., Onsea, J., Van Nieuwenhuyse, B., Bacteriophage Therapy Providers, Bacteriophage Donors, Soentjens, P., Lavigne, R. & Merabishvili, M., 06.2024, In: NAT MICROBIOL. 9, 6, p. 1434-1453 20 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearch

  15. Quantification of N-acetyl-L-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease

    Posern, C., Dreyer, B., Maier, S. L., Eichler, F., Gelb, M. H., Santer, R., Bley, A. & Murko, S., 06.2024, In: MOL GENET METAB. 142, 2, p. 108489 108489.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  16. Volume expansion mitigates Shiga toxin-producing E. coli-hemolytic uremic syndrome in children

    Böckenhauer, J., Schild, R., Kemper, M. J., Henne, T., Stein, M. V., Oh, J. & Loos, S., 06.2024, In: PEDIATR NEPHROL. 39, 6, p. 1901-1907 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data

    Specchio, N., Gissen, P., de Los Reyes, E., Olaye, A., Camp, C., Curteis, T., Griffiths, A., Butt, T., Cohen-Pfeffer, J., Slasor, P., Sisic, Z., Jain, M. & Schulz, A., 22.05.2024, In: PLOS ONE. 19, 5, p. e0302382

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  18. Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study

    Inhestern, L., Otto, R., Brandt, M., Zybarth, D., Oheim, R., Schüler, H., Mir, T. S., Tsiakas, K., Dibaj, P., Zschüntzsch, J., Okun, P. M., Hegenbart, U., Sommerburg, O., Schramm, C., Weiler-Normann, C., Härter, M. & Bergelt, C., 13.05.2024, In: ORPHANET J RARE DIS. 19, 1, p. 197

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

    Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J-H., Ge, Y-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., Emrick, L. T., Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 03.05.2024, In: BRAIN. 147, 5, p. 1837-1855 19 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  20. Genetic landscape of pediatric acute liver failure of indeterminate origin

    Lenz, D., Schlieben, L. D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N. E., Brugger, M., Brunet, T., Bufler, P., Burnytė, B., Calvo, P. L., Crushell, E., Dalgıç, B., Das, A. M., Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S. F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C. T., Knoppke, B., Kohl, M., Kölbel, H., Kölker, S., Konstantopoulou, V., Krylova, T., Kuloğlu, Z., Kuster, A., Laass, M. W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J. A., McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petković Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R. W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G-F., Wagner, M., van der Woerd, W., Wortmann, S. B., Zakharova, E., Hoffmann, G. F., Meitinger, T., Murayama, K., Staufner, C. & Prokisch, H., 01.05.2024, In: HEPATOLOGY. 79, 5, p. 1075-1087 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. Long-term Effects of Kidney Transplantation Compared With Dialysis on Intima-media Thickness in Children-Results From the 4C-T Study

    Grabitz, C., Sugianto, R. I., Doyon, A., Azukaitis, K., Anarat, A., Bacchetta, J., Bayazit, A. K., Bulut, I. K., Caliskan, S., Canpolat, N., Duzova, A., Harambat, J., Kiyak, A., Longo, G., Obrycki, L., Paripovic, D., Thurn-Valsassina, D., Yilmaz, A., Shroff, R., Schaefer, F., Schmidt, B. M. W., Melk, A. & 4C Study Consortium, 01.05.2024, In: TRANSPLANTATION. 108, 5, p. 1212-1219 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  22. Abdominal Aspergillosis – an Underdiagnosed Disease? Three Cases of Abdominal Aspergillosis in Severely Immunocompromised Infants

    Hauch, R. T., Jankofsky, M., Klohs, S., Herden, U., Blohm, M. & Winkler, B., 05.2024, In: KLIN PADIATR. 236, 3, p. 189-192 4 p.

    Research output: SCORING: Contribution to journalCase reportResearchpeer-review

  23. Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma

    Zazara, D. E., Giannou, O., Schepanski, S., Pagenkemper, M., Giannou, A. D., Pincus, M., Belios, I., Bonn, S., Muntau, A. C., Hecher, K., Diemert, A. & Arck, P. C., 05.2024, In: WORLD J PEDIATR. 20, 5, p. 481-495 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis

    Grinstein, L., Hecher, L., Weiss, D., Johannsen, J. & Denecke, J., 04.2024, In: NEUROPEDIATRICS. 55, 2, p. 117-123 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

    Mütze, U., Ottenberger, A., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Vom Dahl, S., Weinhold, N., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T., Behne, R., Haas, D., Spiekerkoetter, U., Hoffmann, G. F., Garbade, S. F., Grünert, S. C. & Kölker, S., 04.2024, In: ANN CLIN TRANSL NEUR. 11, 4, p. 883-898 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  26. P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO)

    Charras, A., Hofmann, S. R., Cox, A., Schulze, F., Russ, S., Northey, S., Liu, X., Fang, Y., Haldenby, S., Hartmann, H., Bassuk, A. G., Carvalho, A., Sposito, F., Grinstein, L., Rösen-Wolff, A., Meyer-Bahlburg, A., Beresford, M. W., Lainka, E., Föll, D., Wittkowski, H., Girschick, H. J., Morbach, H., Uebe, S., Hüffmeier, U., Ferguson, P. J. & Hedrich, C. M., 04.2024, In: J AUTOIMMUN. 144, p. 103183

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  27. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Posset, R., Garbade, S. F., Gleich, F., Scharre, S., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Druck, A-C., Epp, F., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group[Corporate Author], 04.2024, In: GENET MED. 26, 4, p. 101039

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. IL-22 promotes liver regeneration after portal vein ligation

    Zhang, T., Seeger, P., Simsek, Y. J., Sabihi, M., Lücke, J., Zazara-Giannou, D., Shiri, M., Kempski, J. M., Blankenburg, T., Zhao, L., Belios, I., Machicote, A. P., Mercanoglu, B., Fard-Aghaie, M., Notz, S. J., Lykoudis, P. M., Kemper, M., Ghadban, T., Mann, O., Hackert, T., Izbicki, J., Renne, T., Huber, S., Giannou, A. & Li, J., 30.03.2024, In: HELIYON. 10, 6, p. e27578

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  29. The parent and family impact of CLN3 disease: an observational survey-based study

    Schulz, A., Patel, N., Brudvig, J. J., Stehr, F., Weimer, J. M. & Augustine, E. F., 18.03.2024, In: ORPHANET J RARE DIS. 19, 1, p. 125

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  30. Mouse models of spontaneous liver and lung metastasis for colorectal cancer

    Lücke, J., Mercanoglu, B., Zhang, T., Zazara, D. E., Zigmond, E., Seeger, P., Mann, O., Izbicki, J. R., Hackert, T., Huber, S. & Giannou, A. D., 15.03.2024, In: STAR PROTOC. 5, 1, p. 102811

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  31. Protocol for generating lung and liver metastasis in mice using models that bypass intravasation

    Lücke, J., Zhang, T., Zazara, D. E., Seeger, P., Izbicki, J. R., Hackert, T., Huber, S. & Giannou, A. D., 15.03.2024, In: STAR PROTOC. 5, 1, p. 102696

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Clinical recommendations for the inpatient management of lower respiratory tract infections in children and adolescents with severe neurological impairment in Germany

    Mauritz, M. D., von Both, U., Dohna-Schwake, C., Gille, C., Hasan, C., Huebner, J., Hufnagel, M., Knuf, M., Liese, J. G., Renk, H., Rudolph, H., Schulze-Sturm, U., Simon, A., Stehling, F., Tenenbaum, T. & Zernikow, B., 03.2024, In: EUR J PEDIATR. 183, 3, p. 987-999 13 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  33. Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease

    Bremer, S-J., Boxnick, A., Glau, L., Biermann, D., Joosse, S. A., Thiele, F., Billeb, E., May, J., Kolster, M., Hackbusch, R., Fortmann, M. I., Kozlik-Feldmann, R., Hübler, M., Tolosa, E., Sachweh, J. S. & Gieras, A., 23.02.2024, In: J CLIN IMMUNOL. 44, 3, 69.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  34. A multi-center interventional study to assess pharmacokinetics, effectiveness, and tolerability of prolonged-release tacrolimus after pediatric kidney transplantation: study protocol for a prospective, open-label, randomized, two-phase, two-sequence, single dose, crossover, phase III b trial

    Karaterzi, S., Tönshoff, B., Ahlenstiel-Grunow, T., Baghai, M., Beck, B., Büscher, A., Eifler, L., Giese, T., Lezius, S., Müller, C., Oh, J., Zapf, A., Weber, L. T. & Pape, L., 20.02.2024, In: Frontiers in nephrology. 4, 1331510.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  35. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

    Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R. W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N. M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A. T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J. A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L. & Wagner, M., 02.2024, In: GENET MED. 26, 2, 101013.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. The authors reply

    Mühlig, A. K., Schmitt, C-P. & Oh, J., 02.2024, In: KIDNEY INT. 105, 2, p. 390

    Research output: SCORING: Contribution to journalLetterResearchpeer-review

  37. Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis

    Maier, P., Jeyaweerasinkam, S., Eberhard, J., Soueidan, L., Hämmerling, S., Kohlmüller, D., Feyh, P., Gramer, G., Garbade, S. F., Hoffmann, G. F., Okun, J. G. & Sommerburg, O., 12.01.2024, In: INT J NEONAT SCREEN. 10, 1, 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. Functional studies drive treatment of phenylketonuria to become personalized

    Gundorova, P., Danecka, M. K., Woidy, M., Kasten, V., Muntau, A. C. & Gersting, S. W., 04.01.2024, In: EUR J HUM GENET. 32, Suppl 1, p. 698 P19.044.D.

    Research output: SCORING: Contribution to journalConference abstract in journalResearchpeer-review

  39. Epidemiology of 7375 children and adolescents hospitalized with COVID-19 in Germany, reported via a prospective, nationwide surveillance study in 2020-2022

    Doenhardt, M., Hufnagel, M., Diffloth, N., Hübner, J., Mauer, R., Schneider, D. T., Simon, A., Tenenbaum, T., Trotter, A., Armann, J., Berner, R. & DGPI COVID-19 working group, 02.01.2024, In: SCI REP-UK. 14, 1, p. 47

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

    Worthmann, A., Ridder, J., Piel, S. Y. L., Evangelakos, I., Musfeldt, M., Voß, H., O'Farrell, M., Fischer, A. W., Adak, S., Sundd, M., Siffeti, H., Haumann, F., Kloth, K., Bierhals, T., Heine, M., Pertzborn, P., Pauly, M., Scholz, J-J., Kundu, S., Fuh, M. M., Neu, A., Tödter, K., Hempel, M., Knippschild, U., Semenkovich, C. F., Schlüter, H., Heeren, J., Scheja, L., Kubisch, C. & Schlein, C., 02.01.2024, In: NAT COMMUN. 15, 1, p. 45

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. Das bewusstlose Kind

    Kurnaz, P., Nagel, P. D. & Deindl, P., 01.2024, In: DEUT MED WOCHENSCHR. 149, 1-02, p. 58-63 6 p.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  42. Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria

    Burton, B. K., Clague, G. E., Harding, C. O., Kucuksayrac, E., Levy, D. G., Lindstrom, K., Longo, N., Maillot, F., Muntau, A. C., Rutsch, F. & Zori, R. T., 01.2024, In: MOL GENET METAB. 141, 1, p. 108114

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  43. Management of phenylketonuria in European PKU centres remains heterogeneous

    Kirsten, A., Amaya, B-Q., Alberto, B., Maria, G., Francois, M., Ania, M., Anne, R. & Anita, M., 01.2024, In: MOL GENET METAB. 141, 1, p. 108120

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

    Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P., Nickel, M., Trivisano, M., Aylward, S. C., Chakrapani, A., Schwering, C., Wibbeler, E., Westermann, L. M., Ballon, D. J., Dyke, J. P., Cherukuri, A., Bondade, S., Slasor, P. & Cohen Pfeffer, J., 01.2024, In: LANCET NEUROL. 23, 1, p. 60-70 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  45. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

    Pfrimmer, C., Smitka, M., Muschol, N., Husain, R. A., Huemer, M., Hennermann, J. B., Schuler, R. & Hahn, A., 2024, In: J NEUROMUSCULAR DIS. 11, 1, p. 167-177 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  46. Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry’s disease

    Lund, N., Wieboldt, H., Fischer, L., Muschol, N. M., Braun, F., Huber, T., Sorriento, D., Iaccarino, G., Muellerleile, K., Tahir, E., Adam, G., Kirchhof, P., Fabritz, L. & Patten, M., 2024, In: FRONT CARDIOVASC MED. 11, 11, p. 1355033 1355033.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  47. Sturz vom Wickeltisch: Besonderheiten, die zu beachten sind

    Lange, M., Kramer, S., Voll, C. & Corbacioglu, S., 2024, In: MONATSSCHR KINDERH.

    Research output: SCORING: Contribution to journalCase reportResearchpeer-review

  48. 2023
  49. Nirsevimab for Prevention of Hospitalizations Due to RSV in Infants

    Drysdale, S. B., Cathie, K., Flamein, F., Knuf, M., Collins, A. M., Hill, H. C., Kaiser, F., Cohen, R., Pinquier, D., Felter, C. T., Vassilouthis, N. C., Jin, J., Bangert, M., Mari, K., Nteene, R., Wague, S., Roberts, M., Tissières, P., Royal, S., Faust, S. N. & HARMONIE Study Group, 28.12.2023, In: NEW ENGL J MED. 389, 26, p. 2425-2435 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. Protocol for orthotopic single-lung transplantation in mice as a tool for lung metastasis studies

    Giannou, A. D., Ohm, B., Zazara, D. E., Lücke, J., Zhang, T., Sabihi, M., Seeger, P., Oh, J., Grotelüschen, R., Busch, P., Mann, O., Hackert, T., Izbicki, J. R., Yamada, Y., Huber, S. & Jungraithmayr, W., 15.12.2023, In: STAR PROTOC. 4, 4, p. 102701

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

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