Department of Pediatrics
Publications
- 2024
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Case report › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 106014Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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 journal › SCORING: Journal article › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. e0302382Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 197Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Case report › Research › peer-review
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi, D., Bierhals, T., Volk, A. E., Kutsche, M., Paul, K. & Herget, T., 05.2024, In: AM J MED GENET A. 194, 5, p. e63515 e63515.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 103183Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 101039Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. e27578Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 125Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 102811Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 102696Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Review article › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
The authors reply
Mühlig, A. K., Schmitt, C-P. & Oh, J., 02.2024, In: KIDNEY INT. 105, 2, p. 390Research output: SCORING: Contribution to journal › Letter › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Conference abstract in journal › Research › peer-review
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. 47Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › Other (editorial matter etc.) › Research
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. 108114Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 108120Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
Zang, J., Witt, S., Johannsen, J., Weiss, D., Denecke, J., Dumitrascu, C., Nießen, A., Quitmann, J. H., Pflug, C. & Flügel, T., 2024, In: J NEUROMUSCULAR DIS. 11, 2, p. 473-483 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Case report › Research › peer-review
- 2023
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 journal › SCORING: Journal article › Research › peer-review
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. 102701Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review