Amsterdam Gastroenterology Endocrinology Metabolism

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

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

Iverson, R., Taljaard, M., Geraghty, M. T., Pugliese, M., Tingley, K., Coyle, D., Kronick, J. B., Wilson, K., Austin, V., Brunel-Guitton, C., Buhas, D., Butcher, N. J., Chan, A. K. J., Dyack, S., Goobie, S., Greenberg, C. R., Jain-Ghai, S., Inbar-Feigenberg, M., Karp, N., Kozenko, M., & 30 othersLangley, E., Lines, M., Little, J., MacKenzie, J., Maranda, B., Mercimek-Andrews, S., Mhanni, A., Mitchell, J. J., Nagy, L., Offringa, M., Pender, A., Potter, M., Prasad, C., Ratko, S., Salvarinova, R., Schulze, A., Siriwardena, K., Sondheimer, N., Sparkes, R., Stockler-Ipsiroglu, S., Tapscott, K., Trakadis, Y., Turner, L., van Karnebeek, C., Vandersteen, A., Walia, J. S., Wilson, B. J., Yu, A. C., Potter, B. K. & Chakraborty, P., 1 Dec 2024, In: BMC Pediatrics. 24, 1, 37.

Research output: Contribution to journal › Article › Academic › peer-review

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

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., Ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 1 Dec 2024, In: BMC psychiatry. 24, 1, p. 23 23.

Research output: Contribution to journal › Article › Academic › peer-review

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

van de Riet, L., Aris, A. M., Verouden, N. W., van Rooij, T., van Woensel, J. B. M., van Karnebeek, C. D. & Alsem, M. W., 1 Dec 2024, In: PEC Innovation. 4, 100280.

Research output: Contribution to journal › Article › Academic › peer-review