dr. T.J. de Koning

Research

Publications
  1. Identification of human D lactate dehydrogenase deficiency

    Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Cali, F., Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 1-Apr-2019, In : Nature Communications. 10, 8 p., 1477.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

    van Egmond, M. E., Contarino, M. F., Lugtenberg, C. H. A., Peall, K. J., Brouwer, O. F., Fung, V. S. C., Roze, E., Stewart, R. E., Willemsen, M. A., Wolf, N. I., de Koning, T. J. & Tijssen, M. A., Mar-2019, In : Movement Disorders. 34, 3, p. 317-320 4 p.

    Research output: Contribution to journalEditorialAcademicpeer-review

  3. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Kuiper, A., Grünewald, S., Murphy, E., Coenen, M. A., Eggink, H., Zutt, R., Rubio-Gozalbo, M. E., Bosch, A. M., Williams, M., Derks, T. G. J., Lachmann, R. H. L., Brouwers, M. C. G. J., Janssen, M. C. H., Tijssen, M. A. & de Koning, T. J., May-2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

    Koens, L. H., Tijssen, M. A. J., Lange, F., Wolffenbuttel, B. H. R., Rufa, A., Zee, D. S. & de Koning, T. J., Dec-2018, In : Movement Disorders. 33, 12, p. 1844-1856 13 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea

    van Egmond, M. E., Kuiper, A., Elting, J. W. J., Brouwer, O. F., de Koning, T. J. & Tijssen, M. A. J., Mar-2015, In : Movement Disorders Clinical Practice. 2, 1, p. 61-63 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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