Clara van Karnebeek

Prof. MD PhD

Medical Specialist, ANS - Cellular & Molecular Mechanisms Affiliatie UvA Full Professor, Amsterdam Gastroenterology Endocrinology Metabolism Full Professor, Pediatrics

Specialization

Focus of research

Key publications
Latest publications

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 othersEvans, A. M., Friedman, J. M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O. A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K. R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S. E., van Allen, M. I., Wishart, D., Wu, J., Wu, J., Zafeiriou, D., Kluijtmans, L., Wevers, R. A., Eydoux, P., Lehman, A. M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W. W. & van Karnebeek, C. D., 2016, In: New England journal of medicine. 374, 23, p. 2246-2255
Research output: Contribution to journal › Article › Academic › peer-review
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 othersRozmus, J., Harshman, K., Stevenson, B. J., Girardi, E., Superti-Furga, G., Dewan, T., Collingridge, A., Halparin, J., Ross, C. J., van Allen, M. I., Rossi, A., Engelke, U. F., Kluijtmans, L. A. J., van der Heeft, E., Renkema, H., de Brouwer, A., Huijben, K., Zijlstra, F., Heisse, T., Boltje, T., Wasserman, W. W., Rivolta, C., Unger, S., Lefeber, D. J., Wevers, R. A. & Superti-Furga, A., 2016, In: Nature Genetics. 48, 7, p. 777-+
Research output: Contribution to journal › Article › Academic › peer-review
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 othersZhang, L-H., Bhavsar, A. P., Sinclair, G., Waheed, A., Wasserman, W. W. & Stockler-Ipsiroglu, S., 2014, In: American journal of human genetics. 94, 3, p. 453-461
Research output: Contribution to journal › Article › Academic › peer-review
All publications

Clara van Karnebeek

Specialization

Focus of research

Exome Sequencing and the Management of Neurometabolic Disorders

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Designing eHealth interventions for children with complex care needs requires continuous stakeholder collaboration and co-creation

Clara van Karnebeek

Specialization

Focus of research

Exome Sequencing and the Management of Neurometabolic Disorders

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Designing eHealth interventions for children with complex care needs requires continuous stakeholder collaboration and co-creation

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