Department of Pediatrics
Publications
- 2015
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo, T., Schweizer, M., Kollmann, K., Schumacher, V., Muschol, N., Tolosa, E., Mittrücker, H-W. & Braulke, T., 19.01.2015, In: J CELL BIOL. 208, 2, p. 171-80 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Risk of Rotavirus Vaccination for Children with SCID
Klinkenberg, D., Blohm, M., Hoehne, M., Mas Marques, A., Malecki, M., Schildgen, V., Schneppenheim, R., Müller, I., Schildgen, O. & Kobbe, R., 01.01.2015, In: PEDIATR INFECT DIS J. 34, 1, p. 114-5 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
An instructional video enhanced bag-mask ventilation quality during simulated newborn resuscitation
Deindl, P., Schwindt, J., Berger, A. & Schmölzer, G. M., 01.2015, In: ACTA PAEDIATR. 104, 1, p. E20-E26 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Günther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tüngler, V., Chara, O., Lee, Y. A., Hübner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K. R., Ramantani, G., Bauerfeind, A., Morris, D. L., Cunninghame Graham, D. S., Bubeck, D., Leitch, A., Ralston, S. H., Blackburn, E. A., Gahr, M., Witte, T., Vyse, T. J., Melchers, I., Mangold, E., Nöthen, M. M., Aringer, M., Kuhn, A., Lüthke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J. D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M. E., Jackson, A. P. & Lee-Kirsch, M. A., 01.2015, In: J CLIN INVEST. 125, 1, p. 413-424 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management of adult patients with phenylketonuria: survey results from 24 countries
Trefz, F. K., van Spronsen, F. J., MacDonald, A., Feillet, F., Muntau, A. C., Belanger-Quintana, A., Burlina, A., Demirkol, M., Giovannini, M. & Gasteyger, C., 01.2015, In: EUR J PEDIATR. 174, 1, p. 119-127 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
8p deletion is strongly linked to poor prognosis in breast cancer
Lebok, P., Mittenzwei, A., Kluth, M., Özden, C., Taskin, B., Hussein, K., Möller, K., Hartmann, A., Lebeau, A., Witzel, I., Mahner, S., Wölber, L., Jänicke, F., Geist, S., Paluchowski, P., Wilke, C., Heilenkötter, U., Simon, R., Sauter, G., Terracciano, L., Krech, R., von der Assen, A., Müller, V. & Burandt, E., 2015, In: CANCER BIOL THER. 16, 7, p. 1080-7 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aktuelle Ergebnisse notfallmedizinischer Forschung 2013/2014
Hinkelbein, J., Braunecker, S., Singer, D., Trentzsch, H., Thiele, H., Böhm, L., Bernhard, M. & Böttiger, B. W., 2015, In: Notfallmed up2date. 10, 1, p. 73-96Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015: Teil 1: Reanimation, Atemwegsmanagement, kardiovaskuläre und neurologische Erkrankungen
Hinkelbein, J., Singer, D., Trentzsch, H., Braunecker, S., Böhm, L., Bernhard, M., Cirillo, F., Thiele, H. & Böttiger, B. W., 2015, In: Notfallmed up2date. 10, 04, p. 353-368Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015: Teil 2: Traumatologie, pädiatrische Notfälle
Hinkelbein, J., Singer, D., Trentzsch, H., Braunecker, S., Böhm, L., Bernhard, M., Cirillo, F., Thiele, H. & Böttiger, B. W., 2015, In: Notfallmed up2date. 10, 04, p. 369-384Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation
Pohl, S. & Hasilik, A., 2015, In: METHODS CELL BIOL. 126, p. 63-83 21 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bispectral index and lower margin amplitude of the amplitude-integrated electroencephalogram in neonates
Werther, T., Olischar, M., Giordano, V., Czaba, C., Waldhoer, T., Berger, A., Pollak, A. & Deindl, P., 2015, In: NEONATOLOGY. 107, 1, p. 34-41 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chronische Krankheit in der Familie
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 9. Workshopkongress für Klinische Psychologie und Psychotherapie & 33. Symposium der Fachgruppe Klinische Psychologie und Psychotherapie der DGPs: Wieviel Psychologie steckt in der Psychotherapie? Positionen, Perspektiven, Lösungen .Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
Complement Interactions with Blood Cells, Endothelial Cells and Microvesicles in Thrombotic and Inflammatory Conditions
Karpman, D., Ståhl, A., Arvidsson, I., Johansson, K., Loos, S., Tati, R., Békássy, Z., Kristoffersson, A-C., Mossberg, M. & Kahn, R., 2015, In: ADV EXP MED BIOL. 865, p. 19-42 24 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter, A., Schulz, A., Bley, A., Nickel, M. & Richterich, A., 2015, In: Päd Praxis. 83, p. 561-570Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
Extracellular Vesicles from MSC Modulate the Immune Response to Renal Allografts in a MHC Disparate Rat Model
Koch, M., Lemke, A. & Lange, C., 2015, In: Stem Cells Int. 2015, p. 486141Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Forensische Pädopathologie: Akzidentelle Vergiftung durch Inhalation und Exposition gegenüber CO-haltigem Shisha-Rauch.
Dietz, E., Kappus, S., Ulrich, M-R., Grabhorn, E. F. & Püschel, K., 2015, In: päd Praktische Pädiatrie. 21, 5, p. 288-291Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Konnataler Morbus Basedow mit begleitender konjugierter Hyperbilirubinämie
Kabisch, S., Wolf, M., Akkurt, I. & Singer, D., 2015, In: Päd Praxis. 84, 2, p. 191-195Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Langzeitverlauf nach STEC-HUS Epidemie (2011) assoziiert mit Shiga-Toxin produzierenden E.coli O104:H4 in Deutschland: erste Ergebnisse
Aulbert, W., Loos, S., Kranz, B., Konrad, M., Wigger, M., Staude, H., Krause, M., Müller, D., Lemke, J., Beringer, O., Kropp, F., Haffner, D., Pape, L., Ahlenstiel-Grunow, T., Hoppe, B., Oh, J. & Kemper, M. J., 2015, Nieren- und Hochdruckkrankheiten. 2 ed. Dustri-Verlag, Vol. 44. p. 39-110 71 p.Research output: SCORING: Contribution to book/anthology › Conference contribution - Poster › Research
Lebensqualität von chronisch erkrankten Kindern und ihren Familien
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 22. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke e.V. (DGM).Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 23. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung (DIGAB) e.V.. German Medical Science GMS Publishing HouseResearch output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
Mechanische Beatmung
Deindl, P., Ibla, J. & Hansmann, G., 2015, Neugeborenen-Notfälle: Erstversorgung und Intensivmedizin. Hansmann, G. (ed.). 2 ed. Schattauer, 18 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Gramer, G., Haege, G., Fang-Hoffmann, J., Hoffmann, G. F., Bartram, C. R., Hinderhofer, K., Burgard, P. & Lindner, M., 2015, In: JIMD reports. 23, p. 101-12 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene
Stendel, C., Gallenmüller, C., Peters, K., Bürger, F., Gramer, G., Biskup, S. & Klopstock, T., 2015, In: J NEUROL. 262, 4, p. 1072-3 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pathogenese und Therapie des steroidsensiblen (minimal change) nephrotischen Syndroms: Neue Aspekte
Dettmar, A. & Oh, J., 2015, In: Päd Praxis. 83, 3, p. 455-466Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis
Jankowiak, W., Kruszewski, K., Flachsbarth, K., Skevas, C., Richard, G., Rüther, K., Braulke, T. & Bartsch, U., 2015, In: PLOS ONE. 10, 5, p. e0127204Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
Trefz, F. K., Muntau, A. C., Lagler, F. B., Moreau, F., Alm, J., Burlina, A., Rutsch, F., Bélanger-Quintana, A., Feillet, F. & KAMPER investigators, 2015, In: JIMD reports. 23, p. 35-43Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
Löbel, U., Schweser, F., Nickel, M., Deistung, A., Grosse, R., Hagel, C., Fiehler, J., Schulz, A., Hartig, M., Reichenbach, J. R., Kohlschütter, A. & Sedlacik, J., 01.12.2014, In: ANN CLIN TRANSL NEUR. 1, 12, p. 1041-6 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Family strain and its relation to psychosocial dysfunction in children and adolescents after liver transplantation
Kaller, T., Petersen, I., Petermann, F., Fischer, L., Grabhorn, E. & Schulz, K-H., 01.12.2014, In: PEDIATR TRANSPLANT. 18, 8, p. 851-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long survival in Leigh Syndrome: new cases and review of literature
Aulbert, W., Weigt-Usinger, K., Thiels, C., Köhler, C., Vorgerd, M., Schreiner, A., Hoffjan, S., Rothoeft, T., Wortmann, S. B., Heyer, C. M., Podskarbi, T. & Lücke, T., 01.12.2014, In: NEUROPEDIATRICS. 45, 6, p. 346-53 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Neonatal Pain, Agitation and Sedation Scale reliably detected oversedation but failed to differentiate between other sedation levels
Giordano, V., Deindl, P., Kuttner, S., Waldhör, T., Berger, A. & Olischar, M., 01.12.2014, In: ACTA PAEDIATR. 103, 12, p. e515-21Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl, T., Tsiakas, K., Mühlhausen, C., Santer, R., C, W., Dr. von der Wense, A. & Singer, D., 12.2014, In: Z GEBURTSH NEONATOL. 218, 06, p. 269-270Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The effect of intra- and postoperative allogenic blood transfusion on patients' survival undergoing radical cystectomy for urothelial carcinoma of the bladder
Gierth, M., Aziz, A., Fritsche, H. M., Burger, M., Otto, W., Zeman, F., Pawlik, M. T., Hansen, E., May, M. & Denzinger, S., 12.2014, In: WORLD J UROL. 32, 6, p. 1447-53 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impedance cardiography (electrical velocimetry) and transthoracic echocardiography for non-invasive cardiac output monitoring in pediatric intensive care patients: a prospective single-center observational study
Blohm, M., Obrecht, D., Hartwich, J., Müller, G., Kersten, J., Weil, J. & Singer, D., 19.11.2014, In: CRIT CARE. 18, 6, p. 603Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Strømme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., van der Knaap, M. S., Bernard, G. & 4H Research Group, 18.11.2014, In: NEUROLOGY. 83, 21, p. 1898-905 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mice over-expressing human erythropoietin indicate that erythropoietin enhances expression of its receptor via up-regulated Gata1 and Tal1
Deindl, P., Klar, M., Drews, D., Cremer, M., Gammella, E., Gassmann, M. & Dame, C., 01.10.2014, In: HAEMATOLOGICA. 99, 10, p. e205-7Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Unexplained Loss of Vision in a Child: Consider Bilateral Primary Optic Nerve Sheath Meningioma
Nickel, M., Löbel, U., Holst, B., Kammler, G., Matschke, J., Schulz, A. & Kohlschütter, A., 01.10.2014, In: NEUROPEDIATRICS. 45, 5, p. 321-4 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Geographically weighted regression of land cover determinants of Plasmodium falciparum transmission in the Ashanti Region of Ghana
Ehlkes, L., Krefis, A. C., Kreuels, B., Krumkamp, R., Adjei, O., Ayim-Akonor, M., Kobbe, R., Hahn, A., Vinnemeier, C., Loag, W., Schickhoff, U. & May, J., 30.09.2014, In: INT J HEALTH GEOGR. 13, p. 35Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency
Tran, C., Yazdanpanah, M., Kyriakopoulou, L., Levandovskiy, V., Zahid, H., Naufer, A., Isbrandt, D. & Schulze, A., 25.09.2014, In: CLIN CHIM ACTA. 436, p. 160-8 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Developments in pediatric liver transplantation since implementation of the new allocation rules in Eurotransplant
Herden, U., Grabhorn, E., Briem-Richter, A., Ganschow, R., Nashan, B. & Fischer, L., 01.09.2014, In: CLIN TRANSPLANT. 28, 9, p. 1061-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Feillet, F., Muntau, A. C., Debray, F-G., Lotz-Havla, A. S., Puchwein-Schwepcke, A., Fofou-Caillierez, M. B., van Spronsen, F. & Trefz, F. F., 01.09.2014, In: J INHERIT METAB DIS. 37, 5, p. 753-62 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol, N. M., 18.08.2014, Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg, R., Panteliadis, C. P. & Hagel, C. (eds.). 2 ed. München: Urban & FischerResearch output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice
Lehners, A., Lange, S., Niemann, G., Rosendahl, A., Meyer-Schwesinger, C., Oh, J., Stahl, R., Ehmke, H., Benndorf, R., Klinke, A., Baldus, S. & Wenzel, U. O., 15.08.2014, In: AM J PHYSIOL-RENAL. 307, 4, p. F407-17Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho de Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., Mandel, H., Bliksrud, Y. T., Freisinger, P., Aldamiz-Echevarria, L. J., Hochuli, M., Gautschi, M., Endig, J., Jordan, J., McKiernan, P., Ernst, S., Morlot, S., Vogel, A., Sander, J. & Das, A. M., 01.08.2014, In: ORPHANET J RARE DIS. 9, p. 107Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
Johannsen, J. & Röder, B., 28.07.2014, In: FRONT HUM NEUROSCI. 8, p. 552Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils
Bakele, M., Lotz-Havla, A. S., Jakowetz, A., Carevic, M., Marcos, V., Muntau, A. C., Gersting, S. W. & Hartl, D., 25.07.2014, In: J BIOL CHEM. 289, 30, p. 20516-25 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area
Bode, S. F. N., Bogdan, C., Beutel, K., Behnisch, W., Greiner, J., Henning, S., Jorch, N., Jankofsky, M., Jakob, M., Schmid, I., Veelken, N., Vraetz, T., Janka, G., Ehl, S. & Lehmberg, K., 01.07.2014, In: J PEDIATR-US. 165, 1, p. 147-153.e1Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypomyelinating leukodystrophies: translational research progress and prospects
Pouwels, P. J. W., Vanderver, A., Bernard, G., Wolf, N. I., Dreha-Kulczewksi, S. F., Deoni, S. C. L., Bertini, E., Kohlschütter, A., Richardson, W., Ffrench-Constant, C., Köhler, W., Rowitch, D. & Barkovich, A. J., 01.07.2014, In: ANN NEUROL. 76, 1, p. 5-19 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Muntau, A. C., Leandro, J., Staudigl, M., Mayer, F. & Gersting, S. W., 01.07.2014, In: J INHERIT METAB DIS. 37, 4, p. 505-23 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CTLA4 Polymorphisms in Minimal Change Nephrotic Syndrome in Children: A Case-Control Study
Ohl, K., Eberhardt, C., Spink, C., Zahn, K., Wagner, N., Eggermann, T., Kemper, M. J., Querfeld, U., Hoppe, B., Harendza, S. & Tenbrock, K., 01.06.2014, In: AM J KIDNEY DIS. 63, 6, p. 1074-5 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review