Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2020

  2. Progression-Free Survival and Overall Survival in Patients with Advanced HER2-Positive Breast Cancer Treated with Trastuzumab Emtansine (T-DM1) after Previous Treatment with Pertuzumab

    Michel, L. L., Hartkopf, A. D., Fasching, P. A., Kolberg, H-C., Hadji, P., Tesch, H., Häberle, L., Ettl, J., Lüftner, D., Wallwiener, M., Müller, V., Beckmann, M. W., Belleville, E., Volz, B., Huebner, H., Wimberger, P., Hielscher, C., Mundhenke, C., Kurbacher, C., Wuerstlein, R., Untch, M., Overkamp, F., Huober, J., Janni, W., Taran, F-A., Lux, M. P., Wallwiener, D., Brucker, S. Y., Schneeweiss, A. & Fehm, T. N., 17.10.2020, In: CANCERS. 12, 10

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

  3. Application of two different nasal CPAP levels for the treatment of respiratory distress syndrome in preterm infants-"The OPTTIMMAL-Trial"-Optimizing PEEP To The IMMAture Lungs: study protocol of a randomized controlled trial

    Waitz, M., Engel, C., Schloesser, R., Rochwalsky, U., Meyer, S., Zemlin, M., Bohnhorst, B., Peter, C., Hoppenz, M., Pabst, T., Zimmer, K-P., Franz, A. R., Ehrhardt, H., Schmidt, A., Larsen, A., Hoffmann, P., Haertel, C., Frieauff, E., Sandkötter, J., Masjosthusmann, K., Deindl, P. & Singer, D., 01.10.2020, In: TRIALS. 21, 1, p. 822

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

  4. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.

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

  5. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., de Vries, E., van der Meer, J. W. M., Ameratunga, R., Roifman, C. M., Schejter, Y. D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R. E., Schröder, C., Stepensky, P., Shadur, B., Pedroza, L. A., van der Flier, M., Martínez-Gallo, M., Gonzalez-Granado, L. I., Allende, L. M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J. F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Dos Santos Vilela, M. M., Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C. A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H. L., Thaventhiran, J. E., Freeman, A. F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N. C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M. R. J., Burns, S. O., Tuijnenburg, P., Kuijpers, T. W., Warnatz, K., Grimbacher, B. & NIHR BioResource, 10.2020, In: J ALLERGY CLIN IMMUN. 146, 4, p. 901-911 11 p.

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

  6. Successful Stem Cell Apheresis Using Spectra Optia in a 6 kg Child With Atypical Teratoid/Rhabdoid Tumor

    Brust, P., Schubert, C., Blohm, M. & Winkler, B., 10.2020, In: J PEDIAT HEMATOL ONC. 42, 7, p. e692-e695

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

  7. Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

    Burgmaier, K., Ariceta, G., Bald, M., Buescher, A. K., Burgmaier, M., Erger, F., Gessner, M., Gokce, I., König, J., Kowalewska, C., Massella, L., Mastrangelo, A., Mekahli, D., Pape, L., Patzer, L., Potemkina, A., Schalk, G., Schild, R., Shroff, R., Szczepanska, M., Taranta-Janusz, K., Tkaczyk, M., Weber, L. T., Wühl, E., Wurm, D., Wygoda, S., Zagozdzon, I., Dötsch, J., Oh, J., Schaefer, F., Liebau, M. C. & ARegPKD consortium, 29.09.2020, In: SCI REP-UK. 10, 1, p. 16025

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

  8. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 271

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

  9. Long-term cognitive deficits in pediatric low-grade glioma (LGG) survivors reflect pretreatment conditions-report from the German LGG studies

    Traunwieser, T., Kandels, D., Pauls, F., Pietsch, T., Warmuth-Metz, M., Bison, B., Krauss, J., Kortmann, R-D., Timmermann, B., Thomale, U-W., Luettich, P., Neumann-Holbeck, A., Tischler, T., Hernáiz Driever, P., Witt, O. & Gnekow, A. K., 25.09.2020, In: NEURO-ONCOL ADV. 2, 1, vdaa094.

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

  10. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

    van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Eisengart, J. B., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Kearney, S., Muenzer, J., Muschol, N., Rust, S., Saville, B. R., Semrud-Clikeman, M., Wang, R. & Shapiro, E., 13.09.2020, In: MOL GENET METAB. 131, 1-2, p. 181-196 16 p.

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

  11. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

    Rietdorf, K., Coode, E. E., Schulz, A., Wibbeler, E., Bootman, M. D. & Ostergaard, J. R., 01.09.2020, In: BBA-MOL BASIS DIS. 1866, 9, 165643.

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

  12. Correction to: PKU dietary handbook to accompany PKU guidelines

    MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., 01.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 230

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

  13. Kindesmisshandlung: interdisziplinärer Kinderschutz

    Ewert, J. N. & Seifert, D., 01.09.2020, In: Pädiatrie up2date. 2020, 03, p. 259-277

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

  14. COVID-19 in children and adolescents in Europe: a multinational, multicentre cohort study

    Götzinger, F., Santiago-García, B., Noguera-Julián, A., Lanaspa, M., Lancella, L., Calò Carducci, F. I., Gabrovska, N., Velizarova, S., Prunk, P., Osterman, V., Krivec, U., Lo Vecchio, A., Shingadia, D., Soriano-Arandes, A., Melendo, S., Lanari, M., Pierantoni, L., Wagner, N., L'Huillier, A. G., Heininger, U., Ritz, N., Bandi, S., Krajcar, N., Roglić, S., Santos, M., Christiaens, C., Creuven, M., Buonsenso, D., Welch, S. B., Bogyi, M., Brinkmann, F., Tebruegge, M., ptbnet COVID-19 Study Group, Kobbe, R. & Rau, C., 09.2020, In: LANCET CHILD ADOLESC. 4, 9, p. 653-661 9 p.

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

  15. Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)

    Gimpel, C., Bergmann, C., Brinkert, F., Cetiner, M., Gembruch, U., Haffner, D., Kemper, M., König, J., Liebau, M., Maier, R. F., Oh, J., Pape, L., Riechardt, S., Rolle, U., Rossi, R., Stegmann, J., Vester, U., Kaisenberg, C. V., Weber, S. & Schaefer, F., 09.2020, In: KLIN PADIATR. 232, 5, p. 228-248 21 p.

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

  16. The use of cinacalcet after pediatric renal Transplantation: an international CERTAIN Registry analysis

    Bernardor, J., Schmitt, C. P., Oh, J., Sellier-Leclerc, A-L., Büscher, A., Dello Strologo, L., Genc, G., John, U., Weitz, M., Zirngibl, M., Krupka, K., Tönshoff, B. & Bacchetta, J., 09.2020, In: PEDIATR NEPHROL. 35, 9, p. 1707-1718 12 p.

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

  17. Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3

    Seifert, C., Storch, S. & Bähring, R., 21.08.2020, In: J BIOL CHEM. 295, 34, p. 12099-12110 12 p.

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

  18. The Genetic Landscape and Epidemiology of Phenylketonuria

    Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Đorđević, M., Desviat, L. R., Eliyahu, A., Evers, R. A. F., Fajkusova, L., Feillet, F., Bonfim-Freitas, P. E., Giżewska, M., Gundorova, P., Karall, D., Kneller, K., Kutsev, S. I., Leuzzi, V., Levy, H. L., Lichter-Konecki, U., Muntau, A. C., Namour, F., Oltarzewski, M., Paras, A., Perez, B., Polak, E., Polyakov, A. V., Porta, F., Rohrbach, M., Scholl-Bürgi, S., Spécola, N., Stojiljković, M., Shen, N., Santana-da Silva, L. C., Skouma, A., van Spronsen, F., Stoppioni, V., Thöny, B., Trefz, F. K., Vockley, J., Yu, Y., Zschocke, J., Hoffmann, G. F., Garbade, S. F. & Blau, N., 06.08.2020, In: AM J HUM GENET. 107, 2, p. 234-250 17 p.

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

  19. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

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

  20. Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities

    Ewert, A., Leifheit-Nestler, M., Hohenfellner, K., Büscher, A., Kemper, M. J., Oh, J., Billing, H., Thumfart, J., Stangl, G., Baur, A. C., Föller, M., Feger, M., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Zivicnjak, M. & Haffner, D., 01.08.2020, In: J CLIN ENDOCR METAB. 105, 8

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

  21. A prospective observational trial evaluating factors predictive of accurate endotracheal tube positioning in neonates and small infants

    Ebenebe, C. U., Deindl, P., Wolf, M., Jahn, M., Singer, D. & Blohm, M. E., 08.2020, In: PEDIATR ANESTH. 30, 8, p. 922-927 6 p.

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

  22. From structural modalities in perinatal medicine to the frequency of preterm birth

    Deindl, P. & Diemert, A., 08.2020, In: SEMIN IMMUNOPATHOL. 42, 4, p. 377-383 7 p.

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

  23. Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

    Lenders, M., Nordbeck, P., Kurschat, C., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., Stumpfe, K., Blaschke, D., Brand, S-M., Mann, W. A., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 08.2020, In: CLIN PHARMACOL THER. 108, 2, p. 326-337 12 p.

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

  24. An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease

    Dulz, S., Atiskova, Y., Wibbeler, E., Wildner, J. E., Wagenfeld, L., Schwering, C., Nickel, M., Bartsch, U., Spitzer, M. & Schulz, A., 21.07.2020, In: AM J OPHTHALMOL. 220, p. 64-71

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

  25. The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

    Johannsen, J., Fuhrmann, L., Grolle, B., Morgenstern, L., Wiegand-Grefe, S. & Denecke, J., 09.07.2020, In: HEALTH QUAL LIFE OUT. 18, 1, p. 219

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

  26. Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

    Bartels, F., Krohn, S., Nikolaus, M., Johannsen, J., Wickström, R., Schimmel, M., Häusler, M., Berger, A., Breu, M., Blankenburg, M., Stoffels, J., Hendricks, O., Bernert, G., Kurlemann, G., Knierim, E., Kaindl, A., Rostásy, K. & Finke, C., 07.2020, In: ANN NEUROL. 88, 1, p. 148-159 12 p.

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

  27. Creatine, guanidinoacetate and homoarginine in statin-induced myopathy

    Neu, A., Hornig, S., Sasani, A., Isbrandt, D., Gerloff, C., Tsikas, D., Schwedhelm, E. & Choe, C-U., 07.2020, In: AMINO ACIDS. 52, 6-7, p. 1067-1069 3 p.

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

  28. Twelve-month outcome in juvenile proliferative lupus Nephritis: results of the German registry study

    Suhlrie, A., Hennies, I., Gellermann, J., Büscher, A., Hoyer, P., Waldegger, S., Wygoda, S., Beetz, R., Lange-Sperandio, B., Klaus, G., Konrad, M., Holder, M., Staude, H., Rascher, W., Oh, J., Pape, L., Tönshoff, B., Haffner, D. & German Society of Pediatric Nephrology, 07.2020, In: PEDIATR NEPHROL. 35, 7, p. 1235-1246 12 p.

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

  29. PKU dietary handbook to accompany PKU guidelines

    MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., 30.06.2020, In: ORPHANET J RARE DIS. 15, 1, p. 171

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

  30. The Limitations of Pain Scales-Reply

    Giordano, V., Deindl, P. & Olischar, M., 01.06.2020, In: JAMA PEDIATR. 174, 6, p. 623-624 2 p.

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

  31. A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice

    Zazara-Giannou, D., Wegmann, M., Giannou, A. D., Hierweger, A. M., Alawi, M., Thiele, K., Huber, S., Pincus, M., Muntau, A. C., Solano, M. E. & Arck, P. C., 06.2020, In: J ALLERGY CLIN IMMUN. 145, 6, p. 1641-1654 14 p.

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

  32. Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V

    Ziegler, A., Wilichowski, E., Schara, U., Hahn, A., Müller-Felber, W., Johannsen, J., von der Hagen, M., von Moers, A., Stoltenburg, C., Saffari, A., Walter, M. C., Husain, R. A., Pechmann, A., Köhler, C., Horber, V., Schwartz, O. & Kirschner, J., 06.2020, In: NERVENARZT. 91, 6, p. 518-529 12 p.

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

  33. Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

    Köhn, A. F., Grigull, L., du Moulin, M., Kabisch, S., Ammer, L., Rudolph, C. & Muschol, N. M., 06.2020, In: MOL GENET METAB REP. 23, p. 100578

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

  34. In situ Visualization of C3/C5 Convertases to Differentiate Complement Activation

    Person, F., Petschull, T., Wulf, S., Buescheck, F., Biniaminov, S., Fehrle, W., Oh, J., Skerka, C., Zipfel, P. F. & Wiech, T., 06.2020, In: KIDNEY INT REP. 5, 6, p. 927-930 4 p.

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

  35. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., Toosi, M. B., Houlden, H., Jin, S. C., Si, Y. C., Rodan, L. H., Venselaar, H., Kruer, M. C., Kok, F., Hoffmann, G. F., Strom, T. M., Wortmann, S. B., Tabet, A-C. & Opladen, T., 06.2020, In: GENET MED. 22, 6, p. 1061-1068 8 p.

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

  36. Successful Immunochemotherapy for Burkitt Lymphoma During Pregnancy as a Bridge to Postpartum High-Dose Methotrexate Therapy: A Case Report and Review of the Literature

    Stang, A., Schwärzler, P., Schmidtke, S., Tolosa, E. & Kobbe, R., 06.2020, In: CL LYMPH MYELOM LEUK. 20, 6, p. e284-e290

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

  37. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

    Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.

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

  38. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

    Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 540-548 9 p.

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

  39. Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy

    Zierfuss, B., Weinhofer, I., Kühl, J-S., Köhler, W., Bley, A., Zauner, K., Binder, J., Martinović, K., Seiser, C., Hertzberg, C., Kemp, S., Egger, G., Leitner, G., Bauer, J., Wiesinger, C., Kunze, M., Forss-Petter, S. & Berger, J., 05.2020, In: ANN CLIN TRANSL NEUR. 7, 5, p. 639-652 14 p.

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

  40. Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series

    Dahlke, C., Heidepriem, J., Kobbe, R., Santer, R., Koch, T., Fathi, A., Ly, M. L., Schmiedel, S., Seeberger, P. H., ID-UKE COVID-19 study group, Addo, M. M. & Loeffler, F., 17.04.2020, In: medRxiv.

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

  41. The Link Between Hyperhomocysteinemia and Hypomethylation: Implications for Cardiovascular Disease

    Barroso, M., Handy, D. E. & Castro, R., 05.04.2020, In: Journal of Inborn Errors of Metabolism and Screening (JIEMS). 5

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

  42. Akute Gastroenteritis im Kindes- und Erwachsenenalter

    Manthey, C., Beime, J. & Schulz-Jürgensen, S., 04.2020, In: Gastroenterologie up2date. 16, 4, p. 367-385

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

  43. Chorioangiom der Plazenta – eine seltene Ursache fetaler High-Output-Herzinsuffizienz

    Ziemann, M., Apostolidou, S., Dum, D., Hecher, K., Singer, D. & Tavares de Sousa, M., 04.2020, In: Z GEBURTSH NEONATOL. 224, 2, p. 103-106 4 p.

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

  44. Effect of hemodialysis on impedance cardiography (electrical velocimetry) parameters in children

    Wilken, M., Oh, J., Pinnschmidt, H. O., Singer, D. & Blohm, M. E., 04.2020, In: PEDIATR NEPHROL. 35, 4, p. 669-676 8 p.

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

  45. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F-G., De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M-C., Oppermann, I., Pérez-Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S. & Crow, Y. J., 04.2020, In: HUM MUTAT. 41, 4, p. 837-849 13 p.

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

  46. POLR3A variants with striatal involvement and extrapyramidal movement disorder

    Harting, I., Al-Saady, M., Krägeloh-Mann, I., Bley, A., Hempel, M., Bierhals, T., Karch, S., Moog, U., Bernard, G., Huntsman, R., van Spaendonk, R. M. L., Vreeburg, M., Rodríguez-Palmero, A., Pujol, A., van der Knaap, M. S., Pouwels, P. J. W. & Wolf, N. I., 04.2020, In: NEUROGENETICS. 21, 2, p. 121-133 13 p.

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

  47. Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry

    Luirink, I. K., Hutten, B. A., Greber-Platzer, S., Kolovou, G. D., Dann, E. J., de Ferranti, S. D., Taylan, C., Bruckert, E., Saheb, S., Oh, J., Driemeyer, J., Farnier, M., Pape, L., Schmitt, C. P., Novoa, F. J., Maeser, M., Masana, L., Shahrani, A., Wiegman, A. & Groothoff, J. W., 04.2020, In: ATHEROSCLEROSIS. 299, p. 24-31 8 p.

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

  48. Wie gut werden Patientinnen auf Internetseiten von deutschen universitären Brustzentren über die Möglichkeiten der Brustrekonstruktion informiert?

    Keck, M., Bergmann, P. A., Deindl, P., Wittig, K. S. & Lohmeyer, J. A., 04.2020, In: HANDCHIR MIKROCHIR P. 52, 2, p. 83-87 5 p.

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

  49. Hip Morphology in Mucolipidosis Type II

    Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728

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

  50. Twin Anemia-Polycythemia Sequence (Zwillings-Anämie-Polyzythämie-Sequenz)

    Bamberg, C., Deindl, P. & Hecher, K., 01.03.2020, In: GEBURTSH FRAUENHEILK. 2020, 03, p. 264-268

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

  51. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

    Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E. & Kutsche, K., 03.2020, In: PLOS GENET. 16, 3, p. e1008625

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

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