Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2022

  2. Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

    Nickel, M. & Schulz, A., 2022, In: FRONT NEUROL. 13, 785841.

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

  3. Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study

    O'Connell, N., Oh, J., Arbeiter, K., Büscher, A., Haffner, D., Kaufeld, J., Kurschat, C., Mache, C., Müller, D., Patzer, L., Weber, L. T., Tönshoff, B., Weitz, M., Hohenfellner, K. & Pape, L., 2022, In: FRONT MED-LAUSANNE. 9, 864554.

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

  4. Recommendations for nasotracheal tube insertion depths in neonates

    Ebenebe, C. U., Schriever, K., Wolf, M., Herrmann, J., Singer, D. & Deindl, P., 2022, In: FRONT PEDIATR. 10, 990423.

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

  5. Safety of Therapeutic Apheresis in Children and Adolescents

    Taylan, C., Schaaf, A., Dorn, C., Schmitt, C. P., Loos, S., Kanzelmeyer, N., Pape, L., Müller, D., Weber, L. T. & Thumfart, J., 2022, In: FRONT PEDIATR. 10, 850819.

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

  6. Teaching fiberoptic-assisted tracheoscopy in very low birth weight infants: A randomized controlled simulator study

    Wolf, M., Seiler, B., Vogelsang, V., Sydney Hopf, L., Moll-Koshrawi, P., Vettorazzi, E., Ebenebe, C. U., Singer, D. & Deindl, P., 2022, In: FRONT PEDIATR. 10, 956920.

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

  7. The Human Fetus and Metabolic Adaptations to Hypoxia

    Singer, D., 2022, Hypoxic respiratory failure in the newborn: From Origins to Clinical Management. Dakshinamurti, S. (ed.). 1 ed. London: CRC Press, p. 6-11 6 p.

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

  8. 2021

  9. Dolutegravir as First- or Second-Line Treatment for HIV-1 Infection in Children

    Turkova, A., White, E., Mujuru, H. A., Kekitiinwa, A. R., Kityo, C. M., Violari, A., Lugemwa, A., Cressey, T. R., Musoke, P., Variava, E., Cotton, M. F., Archary, M., Puthanakit, T., Behuhuma, O., Kobbe, R., Welch, S. B., Bwakura-Dangarembizi, M., Amuge, P., Kaudha, E., Barlow-Mosha, L., Makumbi, S., Ramsagar, N., Ngampiyaskul, C., Musoro, G., Atwine, L., Liberty, A., Musiime, V., Bbuye, D., Ahimbisibwe, G. M., Chalermpantmetagul, S., Ali, S., Sarfati, T., Wynne, B., Shakeshaft, C., Colbers, A., Klein, N., Bernays, S., Saïdi, Y., Coelho, A., Grossele, T., Compagnucci, A., Giaquinto, C., Rojo, P., Ford, D., Gibb, D. M. & ODYSSEY Trial Team, 30.12.2021, In: NEW ENGL J MED. 385, 27, p. 2531-2543 13 p.

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

  10. Improved Less Invasive Surfactant Administration Success in Preterm Infants after Procedure Standardization

    Liebers, B., Ebenebe, C. U., Wolf, M., Blohm, M. E., Vettorazzi, E., Singer, D. & Deindl, P., 06.12.2021, In: CHILDREN-BASEL. 8, 12, 1145.

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

  11. Remdesivir, Sinus Bradycardia and Therapeutic Drug Monitoring in Children With Severe COVID-19

    Rau, C., Apostolidou, S., Singer, D., Avataneo, V. & Kobbe, R., 01.12.2021, In: PEDIATR INFECT DIS J. 40, 12, p. e528-e529

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

  12. Auswirkungen geburtshilflicher Analgesie mit systemischen Opioiden auf das Neugeborene – eine Übersichtsarbeit

    Seiler, B., Deindl, P., Somville, T., Ebenebe, C. U., Hecher, K. & Singer, D., 12.2021, In: Z GEBURTSH NEONATOL. 225, 6, p. 473-483 11 p.

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

  13. Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport

    Feldkötter, M., Thys, S., Adams, A., Becker, I., Büscher, R., Pohl, M., Schild, R., Pape, L., Schmitt, C. P., Taylan, C., Wygoda, S., Klaus, G., Fehrenbach, H., Montoya, C., Konrad, M., Billing, H., Schaar, B. & Hoppe, B., 12.2021, In: PEDIATR NEPHROL. 36, 12, p. 3923-3932 10 p.

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

  14. Erratum: Auswirkungen geburtshilflicher Analgesie mit systemischen Opioiden auf das Neugeborene – eine Übersichtsarbeit

    Seiler, B., Deindl, P., Somville, T., Ebenebe, C. U., Hecher, K. & Singer, D., 12.2021, In: Z GEBURTSH NEONATOL. 225, 6, p. e4

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

  15. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

    Di Lorenzo, G., Westermann, L. M., Schinke, T., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T. & Pohl, S., 12.2021, In: GENET MED. 23, 12, p. 2369-2377 9 p.

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

  16. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

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

  17. Psychosocial situation, adherence, and utilization of video consultation in young adult long-term pediatric liver transplant recipients during COVID-19 pandemic

    Kröncke, S., Lund, L. K., Buchholz, A., Lang, M., Briem-Richter, A., Grabhorn, E. F. & Sterneck, M., 12.2021, In: PEDIATR TRANSPLANT. 25, 8, p. e14121 10 p.

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

  18. The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

    Langer, S., Waterstradt, R., Hillebrand, G., Santer, R. & Baltrusch, S., 12.2021, In: DIABETOLOGIA. 64, 12, p. 2687-2700 14 p.

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

  19. The value of open-source clinical science in pandemic response: lessons from ISARIC

    ISARIC Characterization Group, 12.2021, In: LANCET INFECT DIS. 21, 12, p. 1623-1624 2 p.

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

  20. Investigation of the Proteomes of the Truffles Tuber albidum pico, T. aestivum, T. indicum, T. magnatum, and T. melanosporum

    Krösser, D., Dreyer, B., Siebels, B., Voß, H., Krisp, C. & Schlüter, H., 30.11.2021, In: INT J MOL SCI. 22, 23, 12999.

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

  21. Ten months of temporal variation in the clinical journey of hospitalised patients with COVID-19: An observational cohort

    Hall, M. D., Baruch, J., Carson, G., Citarella, B. W., Dagens, A., Dankwa, E. A., Donnelly, C. A., Dunning, J., Escher, M., Kartsonaki, C., Merson, L., Pritchard, M., Wei, J., Horby, P. W., Rojek, A., Olliaro, P. L. & ISARIC Characterization Group, 23.11.2021, In: ELIFE. 10, e70970.

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

  22. Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

    Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N. & Dulz, S., 20.11.2021, In: ORPHANET J RARE DIS. 16, 1, 485.

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

  23. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

    Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.

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

  24. Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome

    Guerrero-Castillo, S., van Strien, J., Brandt, U. & Arnold, S., 02.11.2021, In: EMBO J. 40, 21, p. e108648

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

  25. Datenerfassungen im Kinderschutz – essenzieller Bestandteil zum besseren Verständnis der Thematik

    Heimann, T., Ewert, J., Metzner, F., Sigmund, F., Jud, A. & Pawils, S., 02.11.2021, In: MONATSSCHR KINDERH. 169, p. 1090-1092 3 p.

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

  26. No Evidence to Favor 99mTc-HMPAO or 99mTc-ECD for Ictal Brain Perfusion SPECT for Identification of the Seizure Onset Zone

    Jaber, M., Taherpour, J., Voges, B., Apostolova, I., Sauvigny, T., House, P. M., Lanz, M., Lindenau, M., Klutmann, S., Martens, T., Stodieck, S. & Buchert, R., 01.11.2021, In: CLIN NUCL MED. 46, 11, p. 890-895 6 p.

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

  27. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

    Emma, F., Hoff, W. V., Hohenfellner, K., Topaloglu, R., Greco, M., Ariceta, G., Bettini, C., Bockenhauer, D., Veys, K., Pape, L., Hulton, S., Collin, S., Ozaltin, F., Servais, A., Deschênes, G., Novo, R., Bertholet-Thomas, A., Oh, J., Cornelissen, E., Janssen, M., Haffner, D., Ravà, L., Antignac, C., Devuyst, O., Niaudet, P. & Levtchenko, E., 11.2021, In: KIDNEY INT. 100, 5, p. 1112-1123 12 p.

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

  28. Case Report: True Thymic Hyperplasia in a 30-Day-Old Boy

    Mokhaberi, N., Woessmann, W., Schäfer, H., Blohm, M., Groth, M. & Reinshagen, K., 11.2021, In: KLIN PADIATR. 233, 6, p. 299-302 4 p.

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

  29. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

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

  30. Hemoconcentration and predictors in Shiga toxin-producing E. coli-hemolytic uremic syndrome (STEC-HUS)

    Loos, S., Oh, J., Loo, L. V. D., Kemper, M. J., Blohm, M. & Schild, R., 11.2021, In: PEDIATR NEPHROL. 36, 11, p. 3777-3783 7 p.

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

  31. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

    Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppänen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S. & European Society for Immunodeficiencies Registry Working Party, 11.2021, In: J ALLERGY CLIN IMMUN. 148, 5, p. 1332-1341.e5 10 p.

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

  32. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

    Schlingmann, K. P., Jouret, F., Shen, K., Nigam, A., Arjona, F. J., Dafinger, C., Houillier, P., Jones, D. P., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M-C., König, J., Braun, A., Bos, C., Ibars Serra, M., Rehmann, H., Zwartkruis, F. J. T., Renkema, K. Y., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B. B., Dahan, K., Sabatini, D., Liebau, M. C., Vargas-Poussou, R., Knoers, N. V. A. M., Konrad, M. & de Baaij, J. H. F., 11.2021, In: J AM SOC NEPHROL. 32, 11, p. 2885-2899 15 p.

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

  33. Pediatric Hypothermia: An Ambiguous Issue

    Singer, D., 31.10.2021, In: INT J ENV RES PUB HE. 18, 21, 11484.

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

  34. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

    Saffari, A., Cannet, C., Blaschek, A., Hahn, A., Hoffmann, G. F., Johannsen, J., Kirsten, R., Kockaya, M., Kölker, S., Müller-Felber, W., Roos, A., Schäfer, H., Schara, U., Spraul, M., Trefz, F. K., Vill, K., Wick, W., Weiler, M., Okun, J. G. & Ziegler, A., 20.10.2021, In: ORPHANET J RARE DIS. 16, 1, 441.

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

  35. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

    Soldati, C., Lopez-Fabuel, I., Wanderlingh, L. G., Garcia-Macia, M., Monfregola, J., Esposito, A., Napolitano, G., Guevara-Ferrer, M., Scotto Rosato, A., Krogsaeter, E. K., Paquet, D., Grimm, C. M., Montefusco, S., Braulke, T., Storch, S., Mole, S. E., De Matteis, M. A., Ballabio, A., Sampaio, J. L., McKay, T., Johannes, L., Bolaños, J. P. & Medina, D. L., 07.10.2021, In: EMBO MOL MED. 13, 10, e13742.

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

  36. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.

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

  37. Commentary on "Pediatric Idiopathic Steroid-sensitive Nephrotic Syndrome Diagnosis and Therapy - Short version of the updated German Best Practice Guideline (S2e)"

    Ehren, R., Benz, M. R., Brinkkötter, P. T., Dötsch, J., Eberl, W. R., Gellermann, J., Hoyer, P. F., Jordans, I., Kamrath, C., Kemper, M. J., Latta, K., Müller, D., Oh, J., Tönshoff, B., Weber, S., Weber, L. T. & German Society of Pediatric Nephrology, 10.2021, In: PEDIATR NEPHROL. 36, 10, p. 2961-2966 6 p.

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

  38. COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

    ISARIC Characterization Group, 10.2021, In: INFECTION. 49, 5, p. 889-905 17 p.

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

  39. Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!

    Fröschle, G. M. C., Ebenebe, C. U., Herrmann, J., Denecke, J., Singer, D. & Dabek, M., 10.2021, In: Z GEBURTSH NEONATOL. 225, 5, p. 445-446 2 p.

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

  40. Pediatric idiopathic steroid-sensitive nephrotic syndrome diagnosis and therapy -short version of the updated German best practice guideline (S2e) - AWMF register no. 166-001, 6/2020

    Ehren, R., Benz, M. R., Brinkkötter, P. T., Dötsch, J., Eberl, W. R., Gellermann, J., Hoyer, P. F., Jordans, I., Kamrath, C., Kemper, M. J., Latta, K., Müller, D., Oh, J., Tönshoff, B., Weber, S., Weber, L. T. & German Society of Pediatric Nephrology, 10.2021, In: PEDIATR NEPHROL. 36, 10, p. 2971-2985 15 p.

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

  41. Reference ranges for sphingosine-1-phosphate in neonates

    Ebenebe, C. U., von Lucadou, M., Moritz, E., Schwedhelm, E., Daum, G., Singer, D., Deindl, P. & Winkler, M. S., 27.09.2021, In: J PERINAT MED. 49, 7, p. 932-935 4 p.

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

  42. Iatrogenic Blood Loss in Very Low Birth Weight Infants and Transfusion of Packed Red Blood Cells in a Tertiary Care Neonatal Intensive Care Unit

    Aboalqez, A., Deindl, P., Ebenebe, C. U., Singer, D. & Blohm, M. E., 25.09.2021, In: CHILDREN-BASEL. 8, 10, 847.

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

  43. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529

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

  44. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

    Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S. & Baumann, U., 17.09.2021, In: CHILDREN-BASEL. 8, 9, 819.

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

  45. Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers

    Scheinin, M., Junnila, J., Reiner, G., MacDonald, A. & Muntau, A. C., 14.09.2021, In: NUTRIENTS. 13, 9, 3189.

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

  46. Bacteriophage Rescue Therapy of a Vancomycin-Resistant Enterococcus faecium Infection in a One-Year-Old Child following a Third Liver Transplantation

    Paul, K., Merabishvili, M., Hazan, R., Christner, M., Herden, U., Gelman, D., Khalifa, L., Yerushalmy, O., Coppenhagen-Glazer, S., Harbauer, T., Schulz-Jürgensen, S., Rohde, H., Fischer, L., Aslam, S., Rohde, C., Nir-Paz, R., Pirnay, J-P., Singer, D. & Muntau, A. C., 07.09.2021, In: VIRUSES-BASEL. 13, 9, p. 1785

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

  47. iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations

    Lotz-Havla, A. S., Woidy, M., Guder, P., Friedel, C. C., Klingbeil, J. M., Bulau, A-M., Schultze, A., Dahmen, I., Noll-Puchta, H., Kemp, S., Erdmann, R., Zimmer, R., Muntau, A. C. & Gersting, S. W., 03.09.2021, In: J PROTEOME RES. 20, 9, p. 4366-4380 15 p.

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

  48. Multiplexed complexome profiling using tandem mass tags

    Guerrero-Castillo, S., Krisp, C., Küchler, K., Arnold, S., Schlüter, H. & Gersting, S. W., 01.09.2021, In: BBA-BIOENERGETICS. 1862, 9, 148448.

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

  49. Prediction of Nociception in Children Using the Nociceptive Flexion Reflex Threshold and the Bispectral Index-A Prospective Exploratory Observational Study

    Mauritz, M. D., Uhlenberg, F., Bashir-Elahi, D., Werther, T., Gottschalk, U., Ebenebe, C. U., Bergers, M., Giordano, V., Vettorazzi, E., Singer, D. & Deindl, P., 01.09.2021, In: PEDIATR CRIT CARE ME. 22, 9, p. e461-e470

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

  50. Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

    Johannsen, J., Weiss, D., Daubmann, A., Schmitz, L. & Denecke, J., 09.2021, In: J CELL MOL MED. 25, 17, p. 8419-8431 13 p.

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

  51. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

    Wortmann, S. B., Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. G., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C., Gersting, S., Prada, C. E., Christodoulou, J., Wolf, N. I., Venselaar, H., Mayr, J. A. & Wevers, R. A., 09.2021, In: GENET MED. 23, 9, p. 1705-1714 10 p.

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

  52. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

    Brennenstuhl, H., Nashawi, M., Schröter, J., Baronio, F., Beedgen, L., Gleich, F., Jeltsch, K., von Landenberg, C., Martini, S., Simon, A., Thiel, C., Tsiakas, K., Opladen, T., Kölker, S., Hoffmann, G. F., Haas, D. & Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN), 09.2021, In: J INHERIT METAB DIS. 44, 5, p. 1272-1287 16 p.

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

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