Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2023

  2. ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

    Gardin, A., Ruiz, M., Beime, J., Cananzi, M., Rathert, M., Rohmer, B., Grabhorn, E., Almes, M., Logarajah, V., Peña-Quintana, L., Casswall, T., Darmellah-Remil, A., Reyes-Domínguez, A., Barkaoui, E., Hierro, L., Baquero-Montoya, C., Baumann, U., Fischler, B., Gonzales, E., Davit-Spraul, A., Laplanche, S. & Jacquemin, E., 07.12.2023, In: ORPHANET J RARE DIS. 18, 1, p. 383

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

  3. Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants

    Müller, S., Kluck, R., Jagodzinski, C., Brügelmann, M., Hohenfellner, K., Büscher, A., Kemper, M. J., Fröde, K., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Pavičić, L., Haffner, D. & Zivicnjak, M., 12.2023, In: PEDIATR NEPHROL. 38, 12, p. 3989-3999 11 p.

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

  4. Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

    Nickel, M., Gissen, P., Greenaway, R., Cappelletti, S., Hamborg, C., Ragni, B., Ribitzki, T., Schulz, A., Tondo, I. & Specchio, N., 12.2023, In: NEUROPEDIATRICS. 54, 6, p. 402-406 5 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  5. Trends in the epidemiology of Clostridioides difficile infection in Germany

    Vehreschild, M. J. G. T., Schreiber, S., von Müller, L., Epple, H-J., Weinke, T., Manthey, C., Oh, J., Wahler, S. & Stallmach, A., 12.2023, In: INFECTION. 51, 6, p. 1695-1702 8 p.

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

  6. Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN

    Reijman, M. D., Kusters, D. M., Groothoff, J. W., Arbeiter, K., Dann, E. J., de Boer, L. M., de Ferranti, S. D., Gallo, A., Greber-Platzer, S., Hartz, J., Hudgins, L. C., Ibarretxe, D., Kayikcioglu, M., Klingel, R., Kolovou, G. D., Oh, J., Planken, R. N., Stefanutti, C., Taylan, C., Wiegman, A. & Schmitt, C. P., 15.11.2023, In: medRxiv.

    Research output: SCORING: Contribution to journal › Preprint › Research

  7. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

    Mah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S., Blatterer, J., Schreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T-F., Weihl, C. C. & Shinawi, M. S., 02.11.2023, In: AM J HUM GENET. 110, 11, p. 1959-1975 17 p.

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

  8. A Qualitative Evaluation of Advanced Training Programs in Glomerular Diseases: Results From a Program Directors' Survey

    Jhaveri, K. D., Schmidt, I. M., Oh, J., Damashek, L. J. & Jain, K., 11.2023, In: KIDNEY INT REP. 8, 11, p. 2183-2186 4 p.

    Research output: SCORING: Contribution to journal › Editorial › Research

  9. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

    Maier, E. M., Mütze, U., Janzen, N., Steuerwald, U., Nennstiel, U., Odenwald, B., Schuhmann, E., Lotz-Havla, A. S., Weiss, K. J., Hammersen, J., Weigel, C., Thimm, E., Grünert, S. C., Hennermann, J. B., Freisinger, P., Krämer, J., Das, A. M., Illsinger, S., Gramer, G., Fang-Hoffmann, J., Garbade, S. F., Okun, J. G., Hoffmann, G. F., Kölker, S. & Röschinger, W., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1043-1062 20 p.

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

  10. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

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

  11. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

    Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.

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

  12. Neonatal outcomes following early fetal growth restriction: a subgroup analysis of the EVERREST study

    Lingam, I., Okell, J., Maksym, K., Spencer, R., Peebles, D., Buquis, G., Ambler, G., Morsing, E., Ley, D., Singer, D., Dyer, J., Ginsberg, Y., Weissbach, T., Huertas-Ceballos, A., Marlow, N., David, A. & EVERREST Consortium, 11.2023, In: ARCH DIS CHILD-FETAL. 108, 6, p. 599-606 8 p.

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

  13. Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

    Weinhofer, I., Rommer, P., Gleiss, A., Ponleitner, M., Zierfuss, B., Waidhofer-Söllner, P., Fourcade, S., Grabmeier-Pfistershammer, K., Reinert, M-C., Göpfert, J., Heine, A., Yska, H. A. F., Casasnovas, C., Cantarín, V., Bergner, C. G., Mallack, E., Forss-Petter, S., Aubourg, P., Bley, A., Engelen, M., Eichler, F., Lund, T. C., Pujol, A., Köhler, W., Kühl, J-S. & Berger, J., 10.2023, In: EBIOMEDICINE. 96, p. 104781

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

  14. Blood transcriptomics mirror regulatory mechanisms during hibernation-a comparative analysis of the Djungarian hamster with other mammalian species

    Cuyutupa, V. R., Moser, D., Diedrich, V., Cheng, Y., Billaud, J-N., Haugg, E., Singer, D., Bereiter-Hahn, J., Herwig, A. & Choukér, A., 10.2023, In: PFLUG ARCH EUR J PHY. 475, 10, p. 1149-1160 12 p.

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

  15. Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality

    Jank, M., Oechsle, A-L., Armann, J., Behrends, U., Berner, R., Chao, C-M., Diffloth, N., Doenhardt, M., Hansen, G., Hufnagel, M., Lander, F., Liese, J. G., Muntau, A. C., Niehues, T., von Both, U., Verjans, E., Weil, K., von Kries, R. & Schroten, H., 10.2023, In: INFECTION. 51, 5, p. 1357-1367 11 p.

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

  16. Developmental dynamics of homoarginine, ADMA and SDMA plasma levels from birth to adolescence

    Baach, F., Meyer, B., Oh, J., Lezius, S., Böger, R., Schwedhelm, E., Choe, C-U. & Neu, A., 10.2023, In: AMINO ACIDS. 55, 10, p. 1381-1388 8 p.

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

  17. High burden of RSV and influenza in patients presenting with suspected pneumonia in the emergency room of a German tertiary hospital in fall of 2022

    Ettemeyer, M., Florey, M., Tanida, K., Jochum, J., Schulze-Sturm, U., Lütgehetmann, M., Baehr, M., Addo, M. M., Schmiedel, S., Rohde, H. & Koch, T., 10.2023, In: INFECTION. 51, 5, p. 1569-1575 7 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  18. Impact of probe-induced abdominal compression on two-dimensional shear wave elastography measurement of split liver transplants in children

    Groth, M., Fischer, L., Herden, U., Brinkert, F., Beime, J., Deindl, P., Adam, G. & Herrmann, J., 10.2023, In: ROFO-FORTSCHR RONTG. 195, 10, p. 905-912 8 p.

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

  19. IPNA-ESPN Junior Master Class-a decade of successful continuing education and training in pediatric nephrology

    Teixeira, A., Topaloglu, R., Cochat, P., Coppo, R., Levtchenko, E., Haffner, D., Mahan, J. D. & Oh, J., 10.2023, In: PEDIATR NEPHROL. 38, 10, p. 3201-3205 5 p.

    Research output: SCORING: Contribution to journal › Editorial › Research

  20. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

    Dulz, S., Schwering, C., Wildner, J., Spartalis, C., Schuettauf, F., Bartsch, U., Wibbeler, E., Nickel, M., Spitzer, M. S., Atiskova, Y. & Schulz, A., 10.2023, In: BRIT J OPHTHALMOL. 107, 10, p. 1478-1483 6 p.

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

  21. Peritoneal transformation shortly after kidney transplantation in pediatric patients with preceding chronic peritoneal dialysis

    Zhang, C., Bartosova, M., Marinovic, I., Schwab, C., Schaefer, B., Vondrak, K., Ariceta, G., Zaloszyc, A., Ranchin, B., Taylan, C., Büscher, R., Oh, J., Mehrabi, A. & Schmitt, C. P., 29.09.2023, In: NEPHROL DIAL TRANSPL. 38, 10, p. 2170-2181 12 p.

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

  22. Case report: Early onset de novo FSGS in a child after kidney transplantation-a successful treatment

    Carvajal Abreu, K., Loos, S., Fischer, L., Pape, L., Wiech, T., Kemper, M. J., Tönshoff, B., Oh, J. & Schild, R., 26.09.2023, In: FRONT PEDIATR. 11, 1280521.

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  23. SOP Das bewusstlose Kind

    Kurnaz, P., Nagel, P. D. & Deindl, P., 26.09.2023, In: Notfallmedizin up2date. 18, 03, p. 239-244 8 p.

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

  24. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

    Rocha, J. C., Ahring, K. K., Bausell, H., Bilder, D. A., Harding, C. O., Inwood, A., Longo, N., Muntau, A. C., Pessoa, A. L. S., Rohr, F., Sivri, S. & Hermida, Á., 11.09.2023, In: NUTRIENTS. 15, 18, 3940.

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

  25. Perceived stress of mothers and fathers on two NICUs before and during the SARS-CoV-2 pandemic

    Deindl, P., Witting, A., Dür, M., Berger, A., Klebermass-Schrehof, K., Singer, D., Giordano, V. & Fuiko, R., 04.09.2023, In: SCI REP-UK. 13, 1, 14540.

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

  26. Experience of early motherhood during the first wave of the COVID-19 pandemic in Northern Germany: a single-centre before and after comparison

    Perez, A., Schepanski, S., Göbel, A., Stuhrmann, L. Y., Singer, D., Bindt, C. & Mudra, S., 09.2023, In: J REPROD INFANT PSYC. 41, 4, p. 428-444 17 p.

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

  27. The impact of pandemic restrictive visiting policies on infant wellbeing in a NICU

    Giordano, V., Fuiko, R., Witting, A., Unterasinger, L., Steinbauer, P., Bajer, J., Farr, A., Hoehl, S., Deindl, P., Olischar, M., Berger, A. & Klebermass-Schrehof, K., 09.2023, In: PEDIATR RES. 94, 3, p. 1098-1103 6 p.

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

  28. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

    Thalwitzer, K. M., Driedger, J. H., Xian, J., Saffari, A., Zacher, P., Bölsterli, B. K., McKeown Ruggiero, S., Sullivan, K. R., Datta, A. N., Kellinghaus, C., Althaus, J., Wiemer-Kruel, A., van Baalen, A., Pampel, A., Alber, M., Braakman, H. M. H., Debus, O. M., Denecke, J., Hobbiebrunken, E., Breitweg, I., Diehl, D., Eitel, H., Gburek-Augustat, J., Preisel, M., Schlump, J-U., Laufs, M., Mammadova, D., Wurst, C., Prager, C., Löhr-Nilles, C., Martin, P., Garbade, S. F., Platzer, K., Benkel-Herrenbrueck, I., Egler, K., Fazeli, W., Lemke, J. R., Runkel, E., Klein, B., Linden, T., Schröter, J., Steffeck, H., Thies, B., von Deimling, F., Illsinger, S., Borggraefe, I., Classen, G., Wieczorek, D., Ramantani, G., Koelker, S., Hoffmann, G. F., Ries, M., Helbig, I. & Syrbe, S., 29.08.2023, In: NEUROLOGY. 101, 9, p. e879-e891

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

  29. Pilot study of an interprofessional pediatric mechanical ventilation educational initiative in two intensive care units

    Mehrzai, P., Höfeler, T., Ebenebe, C. U., Moll-Khosrawi, P., Demirakça, S., Vettorazzi, E., Bergers, M., Lange, M., Dreger, S., Maruhn, H., Singer, D. & Deindl, P., 28.08.2023, In: BMC MED EDUC. 23, 1, p. 610

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

  30. Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

    Barroso, M., Gertzen, M., Puchwein-Schwepcke, A. F., Preisler, H., Sturm, A., Reiss, D. D., Danecka, M. K., Muntau, A. C. & Gersting, S. W., 24.08.2023, In: INT J MOL SCI. 24, 17, 13158.

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

  31. Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study

    Junge, N., Hentschel, H., Krebs-Schmitt, D., Stalke, A., Pfister, E-D., Hartleben, B., Claßen, M., Querfurt, A., Münch, V., Bufler, P., Oh, J. & Grabhorn, E., 22.08.2023, In: CHILDREN-BASEL. 10, 9, 1431.

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

  32. Long-term Outcome of Pediatric Liver Transplant Recipients Who Have Reached Adulthood: A Single-center Experience

    Lund, L. K., Grabhorn, E. F., Rüther, D., Buchholz, A., Lang, M., Herden, U., Fischer, L. & Sterneck, M., 01.08.2023, In: TRANSPLANTATION. 107, 8, p. 1756-1763 8 p.

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

  33. Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

    Merkel, M., Berg, D., Brüggemann, N., Classen, J., Mainka, T., Zittel, S. & Muntau, A. C., 08.2023, In: J NEUROL. 270, 8, p. 3675-3687 13 p.

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

  34. Impact of the COVID-19 pandemic on body mass index in children and adolescents after kidney transplantation

    Kanzelmeyer, N. K., Weigel, F., Boeckenhauer, J., Haffner, D., Oh, J. & Schild, R., 08.2023, In: PEDIATR NEPHROL. 38, 8, p. 2801-2808 8 p.

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

  35. Pain and neurodevelopmental outcomes of infants born very preterm

    Giordano, V., Deindl, P., Gal, E., Unterasinger, L., Fuiko, R., Steinbauer, P., Weninger, M., Berger, A. & Olischar, M., 08.2023, In: DEV MED CHILD NEUROL. 65, 8, p. 1043-1052 10 p.

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

  36. Recommendations for endotracheal tube insertion depths in children

    Ebenebe, C. U., Schriever, K., Apostolidou, S., Wolf, M., Herrmann, J., Singer, D. & Deindl, P., 08.2023, In: EMERG MED J. 40, 8, p. 583-587 5 p.

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

  37. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

    Schnabel, E., Kölker, S., Gleich, F., Feyh, P., Hörster, F., Haas, D., Fang-Hoffmann, J., Morath, M., Gramer, G., Röschinger, W., Garbade, S. F., Hoffmann, G. F., Okun, J. G. & Mütze, U., 28.07.2023, In: NUTRIENTS. 15, 15, 3355.

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

  38. Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5–11 Years

    Lalia, J. K., Schild, R-S., Lütgehetmann, M., Dunay, G. A., Kallinich, T., Kobbe, R., Massoud, M., Oh, J., Pietzsch, L., Schulze-Sturm, U., Schuetz, C., Sibbertsen, F., Speth, F., Thieme, S., Witkowski, M., Berner, R., Muntau, A. C., Gersting, S. W., Toepfner, N., Pagel, J. & Paul, K., 14.07.2023, In: VIRUSES-BASEL. 15, 7, p. 1553

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

  39. Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe

    Lenz, D., Jørgensen, M. H., Kelly, D., Cardinale, V., Geerts, A., Gonçalves Costa, I., Fichtner, A., Garbade, S. F., Hegen, B., Hilberath, J., de Kleine, R., Kupčinskas, L., McLin, V., Niesert, M., Prado Gonzalez, V., Sturm, E., Staufner, C., Tjwa, E., Willemse, J., Zecher, B. F., Larsen, F. S., Sebode, M. & Ytting, H., 01.07.2023, In: J PEDIATR GASTR NUTR. 77, 1, p. 115-120 6 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  40. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

    Harms, F. L., Weiss, D., Lisfeld, J., Alawi, M. & Kutsche, K., 07.2023, In: NEUROGENETICS. 24, 3, p. 171-180 10 p.

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

  41. Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency

    Stindt, J., Dröge, C., Lainka, E., Kathemann, S., Pfister, E-D., Baumann, U., Stalke, A., Grabhorn, E., Shagrani, M. A., Mozer-Glassberg, Y., Hartley, J., Wammers, M., Klindt, C., Philippski, P., Liebe, R., Herebian, D., Mayatepek, E., Berg, T., Schmidt-Choudhury, A., Wiek, C., Hanenberg, H., Luedde, T. & Keitel, V., 07.2023, In: JHEP REP. 5, 7, p. 100690

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

  42. Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study

    Guffon, N., Konstantopoulou, V., Hennermann, J. B., Muschol, N., Bruno, I., Tummolo, A., Ceravolo, F., Zardi, G., Ballabeni, A. & Lund, A., 07.2023, In: J INHERIT METAB DIS. 46, 4, p. 705-719 15 p.

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

  43. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

    Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.

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

  44. Gelingen multiprofessionellen Handelns: Die Beteiligung medizinischer Expert:innen als fachlicher Standard im Kinderschutzverfahren

    Ewert, J. N., 05.06.2023, Praxishandbuch Kinderschutz für Fachkräfte und insoweit erfahrene Fachkräfte : Der Schutzauftrag nach § 8a SGB VIII Rechtliche, psychologische und pädagogische Aspekte. 2 ed. Köln: Reguvis, 18 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research

  45. Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

    Braun, F., Abed, A., Sellung, D., Rogg, M., Woidy, M., Eikrem, O., Wanner, N., Gambardella, J., Laufer, S. D., Haas, F., Wong, M. N., Dumoulin, B., Rischke, P., Mühlig, A. K., Sachs, W., von Cossel, K., Schulz, K., Muschol, N., Gersting, S. W., Muntau, A. C., Kretz, O., Hahn, O., Rinschen, M. M., Mauer, M., Bork, T., Grahammer, F., Liang, W., Eierhoff, T., Römer, W., Hansen, A., Meyer-Schwesinger, C., Iaccarino, G., Tøndel, C., Marti, H-P., Najafian, B., Puelles, V. G., Schell, C. & Huber, T. B., 01.06.2023, In: J CLIN INVEST. 133, 11, e157782.

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

  46. Akute MOG-Antikörper positive Encephalomyelitis bei einer 17 Jahre alten Patientin

    Gärtner, J. M., Johannsen, J. & Denecke, J., 01.06.2023, In: Neuropäd Klin Prax. 22, 3, p. 112-115

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  47. Kinderschutz: Sind chronisch kranke Kinder besonders gefährdet? Notwendigkeit der Zusammenarbeit von Jugendhilfe und Medizin im Kinderschutz bei chronisch kranken Kindern und Jugendlichen

    Ewert, J. N., Schäfer, S., Berthold, O., Kölch, M. & Fegert, J. M., 01.06.2023, In: Das Jugendamt. 2023, 6, p. 266-271 6 p.

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

  48. Activated Src kinases downstream of BCR-ABL and Flt3 induces proteasomal degradation of SHIP1 by phosphorylation of tyrosine 1021

    Ehm, P., Bettin, B. & Jücker, M., 06.2023, In: BBA-MOL CELL RES. 1870, 5, 119467.

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

  49. Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828

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

  50. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314

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

  51. Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

    Murko, S., Peschka, M., Tsiakas, K., Schulz-Jürgensen, S., Herden, U. & Santer, R., 06.2023, In: MOL GENET METAB REP. 35, p. 100977

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

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