Research output per year
Research output per year
Personal profile
Education/Academic qualification
hoogleraar Personalized Medicine voor Genetische Metabole Ziekten in de faculteit Geneeskunde bij de Universiteit van Amsterdam., University of Amsterdam, Faculty of Medicine
Award Date: 18 Jan 2022
Fellow Biochemical Genetics, Canadian College of Medical Genetics
Award Date: 1 Jan 2012
Resident Pediatrics, Nederlandse Vereniging voor Kindergeneeskunde
Award Date: 1 Jan 2009
Master, Medicine, Amsterdam UMC - University of Amsterdam
Award Date: 1 Jan 2003
PhD, Genetics of Intellectual disability, Amsterdam UMC - University of Amsterdam
Award Date: 1 Jan 2002
External positions
Chair Science Committee, Nederlandse Vereniging voor Kindergeneeskunde
2021 → …
Editor Physicians Guide to the Diagnosis Treatment and follow-Up of Inherited Metabolic Diseases
2020 → …
Full Affiliate Professor, BC Children’s Hospital, University of British Columbia, Vancouver CA, dept pediatrics
2019 → …
Co-chair New Technologies Task Force, Diagnostics Scientific Committee, International Rare Diseases Research Consortium
2019 → 2022
Professor, Radboud University Nijmegen Medical Centre
2019 → …
Head Dept Metabolic Diseases, Amalia Children’s Hospital, Radboud University Nijmegen Medical Centre
2019 → …
Principal Investigator & Theme Leader Metabolic Disorders, Radboud University Nijmegen Medical Centre
2019 → …
Director Radboud Center for Mitochondrial and Metabolic Medicine, Radboud University Nijmegen Medical Centre
2019 → …
Therapy Board & Medical Research Council, Radboud University Nijmegen Medical Centre
2019 → …
Editorial Board, Frontiers in Neurology
2018 → …
Ass Professor, BC Children’s Hospital, University of British Columbia, Vancouver CA, dept pediatrics
2011 → 2019
Chair, International PDE Consortium
2011 → …
Keywords
- RJ101 Child Health. Child health services
- Pediatrician
- Biochemical Geneticist
- Neurometabolic diseases
- Preclinical therapy development
- PDE
- GA1
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M. R., Burda, P., Connolly, M. B., Cameron, J., Demos, M., Dewan, T., Dionne, J., & 37 others, 2016, In: New England journal of medicine. 374, 23, p. 2246-2255Research output: Contribution to journal › Article › Academic › peer-review
203 Citations (Scopus) -
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, C. D. M., Bonafé, L., Wen, X-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., Breen, C., Donnai, D., Cormier, V., Heron, D., Nishimura, G., Uchikawa, S., Campos-Xavier, B., Rossi, A., Hennet, T., Brand-Arzamendi, K., & 26 others, 2016, In: Nature Genetics. 48, 7, p. 777-+Research output: Contribution to journal › Article › Academic › peer-review
97 Citations (Scopus) -
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., Ukpeh, H., Chakrapani, A., Preece, M. A., Ball, S., Pitt, J., Vallance, H. D., Coulter-Mackie, M., Nguyen, H., & 6 others, 2014, In: American journal of human genetics. 94, 3, p. 453-461Research output: Contribution to journal › Article › Academic › peer-review
73 Citations (Scopus) -
Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
van Karnebeek, C. D. M., Hartmann, H., Jaggumantri, S., Bok, L. A., Cheng, B., Connolly, M., Coughlin, C. R., Das, A. M., Gospe, S. M., Jakobs, C., van der Lee, J. H., Mercimek-Mahmutoglu, S., Meyer, U., Struys, E., Sinclair, G., van Hove, J., Collet, J-P., Plecko, B. R., Stockler, S., Struijs, E. A., & 1 others, 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 335-344Research output: Contribution to journal › Article › Academic › peer-review
79 Citations (Scopus) -
The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource
van Karnebeek, C. D. M., Shevell, M., Zschocke, J., Moeschler, J. B. & Stockler, S., 2014, In: Molecular Genetics and Metabolism. 111, 4, p. 428-438Research output: Contribution to journal › Review article › Academic › peer-review
98 Citations (Scopus)
Activities
- 1 Oral presentation
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Verbinding, Versnelling, Verandering
Clara D. van Karnebeek (Speaker)
8 Apr 2022Activity: Talk or presentation › Oral presentation › Academic