dr. T.J. de Koning

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E-mail:
t.j.de.koning umcg.nl

Research

Publications
  1. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

    Sobrido, M-J., Bauer, P., de Koning, T., Klopstock, T., Nadjar, Y., Patterson, M. C., Synofzik, M. & Hendriksz, C. J., 21-Jan-2019, In : Orphanet journal of rare diseases. 14, 1, p. 20

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

    Ulmanová, O., Koens, L. H., Jahnová, H., de Vries, J. J., de Koning, T. J., Růžička, E. & Tijssen, M. A. J., Sep-2020, In : Movement Disorders Clinical Practice. 7, Suppl 3, p. S85-S88

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

    Mainka, T., Ziagaki, A., de Koning, T. J., Kühn, A. A. & Ganos, C., Nov-2020, In : Movement Disorders Clinical Practice. 7, 8, p. 1004-1006 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

    Sival, D. A., Garofalo, M., Brandsma, R., Bokkers, T. A., van den Berg, M., de Koning, T. J., Tijssen, M. A. J. & Verbeek, D. S., Dec-2020, In : Diagnostics. 10, 12, 17 p., 997.

    Research output: Contribution to journalArticleAcademicpeer-review

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