prof. dr. O.C.M. (Ody) Sibon

Hoogleraar

Research

Postal address:
Netherlands
Publications
  1. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

    Iuso, A., Wiersma, M., Schüller, H-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N. A., Okun, J. G., Perles, Z., Salem, Y., Barel, O., Vardi, A., Rubinshtein, M., Tirosh, T., Dubnov-Raz, G., Messias, A. C., Terrile, C., Barshack, I., Volkov, A., Avivi, C., Eyal, E., Mastantuono, E., Kumbar, M., Abudi, S., Braunisch, M., Strom, T. M., Meitinger, T., Hoffmann, G. F., Prokisch, H., Haack, T. B., Brundel, B. J. J. M., Haas, D., Sibon, O. C. M. & Anikster, Y. 2018 In : American Journal of Human Genetics. 13 p.

    Research output: Contribution to journalArticle

  2. Stable pantetheine derivatives for the treatment of pantothenate kinase associated neurodegeneration (PKAN) and methods for the synthesis of such compounds

    Jenko, B., Kosec, G., Petkovic, H., Podgorsek Berke, A., Pahor, J., Čusak, A., Sibon, O. & Srinivasan, B. 7-May-2015 4-Nov-2013

    Research output: Patent

  3. Compositions and methods useful for treating diseases characterized by insufficient pantothenate kinase activity

    Kosec, G., Podgorsek Berke, A., Petkovic, H., Sibon, O. C. M., Srinivasan, B. & Hayflick, S. J. 21-Dec-2017 16-Jun-2016

    Research output: Patent

View all (67) »

View graph of relations

ID: 181789