dr. K.E. (Klary E) Niezen-Koning
European Clinical Laboratory Geneticist (Biochemist, PhD, ErCLG) Metabolic Diseases

E-mail:
k.e.niezen-koning umcg.nl
Research
Research units:
Publications
The past and presence of gene targeting: from chemicals and DNA via proteins to RNA
Geel, T. M., Ruiters, M. H. J., Cool, R. H., Halby, L., Voshart, D. C., Andrade Ruiz, L., Niezen-Koning, K. E., Arimondo, P. B. & Rots, M. G., 5-Jun-2018, In : Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences. 373, 1748, 20170077.Research output: Contribution to journal › Review article › Academic › peer-review
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
Berkovic, S. F., Staropoli, J. F., Carpenter, S., Oliver, K. L., Kmoch, S., Anderson, G. W., Damiano, J. A., Hildebrand, M. S., Sims, K. B., Cotman, S. L., Bahlo, M., Smith, K. R., Cadieux-Dion, M., Cossette, P., Jedlickova, I., Pristoupilova, A., Mole, S. E. & ANCL Gene Discovery Consortium, 9-Aug-2016, In : Neurology. 87, 6, p. 579-584 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders
van Eunen, K., Volker-Touw, C. M. L., Gerding, A., Bleeker, A., Wolters, J. C., Rijt, van, W., Martines, A-C. M. F., Niezen-Koning, K. E., Heiner, R. M., Permentier, H., Groen, A. K., Reijngoud, D-J., Derks, T. G. J. & Bakker, B. M., 7-Dec-2016, In : BMC Biology. 14, 1, 15 p., 107.Research output: Contribution to journal › Article › Academic › peer-review
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Huemer, M., Mulder-Bleile, R., Burda, P., Froese, D. S., Suormala, T., Ben Zeev, B., Chinnery, P. F., Dionisi-Vici, C., Dobbelaere, D., Gokcay, G., Demirkol, M., Haeberle, J., Lossos, A., Mengel, E., Morris, A. A., Niezen-Koning, K. E., Plecko, B., Parini, R., Rokicki, D., Schiff, M., Schimmel, M., Sewell, A. C., Sperl, W., Spiekerkoetter, U., Steinmann, B., Taddeucci, G., Trejo-Gabriel-Galan, J. M., Trefz, F., Tsuji, M., Antonia Vilaseca, M., von Kleist-Retzow, J-C., Walker, V., Zeman, J., Baumgartner, M. R. & Fowler, B., Jan-2016, In : Journal of Inherited Metabolic Disease. 39, 1, p. 115-124 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples
Wolters, J. C., Ciapaite, J., van Eunen, K., Niezen-Koning, K. E., Matton, A., Porte, R. J., Horvatovich, P., Bakker, B. M., Bischoff, R. & Permentier, H. P., Sep-2016, In : Journal of Proteome Research. 15, 9, p. 3204-3213 10 p.Research output: Contribution to journal › Article › Academic › peer-review
ID: 101850