Tom J de Koning

Professor
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  1. 2014
  2. Periodic fever in MVK deficiency: A patient initially diagnosed with incomplete Kawasaki disease

    Valtyr S. Thors, Sebastiaan J. Vastert, Nico Wulffraat, Annet Van Royen, Joost Frenkel, Monique De Sain-Van Der Velden & Tom J. De Koning, 2014 Jan 1, In: Pediatrics. 133, 2

    Research output: Contribution to journalArticle

  3. Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

    Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Esther A. Nibbeling, Jan Willem J. Elting, Deborah A. Sival, Oebele F. Brouwer, Jeroen J. de Vries, Hubertus P. Kremer, Richard J. Sinke, Marina A. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Movement Disorders. 29, 1, p. 139-143 5 p.

    Research output: Contribution to journalArticle

  4. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

    Hendriekje Eggink, Anouk Kuiper, Kathryn J. Peall, Maria Fiorella Contarino, Annet M. Bosch, Bart Post, Deborah A. Sival, Marina A.J. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Orphanet Journal of Rare Diseases. 9, 177.

    Research output: Contribution to journalArticle

  5. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

    Eugene F. Diekman, Tom J. De Koning, Nanda M. Verhoeven-Duif, Maroeska M. Rovers & Peter M. Van Hasselt, 2014 Jan 1, In: JAMA Neurology. 71, 2, p. 188-194 7 p.

    Research output: Contribution to journalArticle

  6. 2013
  7. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Maria Veiga-Da-Cunha, Nanda M. Verhoeven-Duif, Tom J. De Koning, Marinus Duran, Bert Dorland & Emile Van Schaftingen, 2013 Nov 1, In: Journal of Inherited Metabolic Disease. 36, 6, p. 961-966 6 p.

    Research output: Contribution to journalArticle

  8. D-amino acid aberrations in cerebrospinal fluid and plasma of smokers

    Jurjen J. Luykx, Steven C. Bakker, Loes Van Boxmeer, Christiaan H. Vinkers, Hanne E. Smeenk, Wouter F. Visser, Nanda M. Verhoeven-Duif, Eric Strengman, Jacobine E. Buizer-Voskamp, Lizzy De Groene, Eric Pa Van Dongen, Paul Borgdorff, Peter Bruins, Tom J. De Koning, René S. Kahn & Roel A. Ophoff, 2013 Sep 1, In: Neuropsychopharmacology. 38, 10, p. 2019-2026 8 p.

    Research output: Contribution to journalArticle

  9. An update on serine deficiency disorders

    S. N. Van Der Crabben, N. M. Verhoeven-Duif, E. H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger & T. J. De Koning, 2013 Jul 1, In: Journal of Inherited Metabolic Disease. 36, 4, p. 613-619 7 p.

    Research output: Contribution to journalArticle

  10. The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

    Monique Albersen, Marjolein Bosma, Nine V.V.A.M. Knoers, Berna H.B. de Ruiter, Eugène F. Diekman, Jessica de Ruijter, Wouter F. Visser, Tom J. de Koning & Nanda M. Verhoeven-Duif, 2013 Jan 14, In: PLoS ONE. 8, 1, e54113.

    Research output: Contribution to journalArticle

  11. Amino acid synthesis deficiencies

    T. J. De Koning, 2013 Jan 1, Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V., p. 1775-1783 9 p. (Handbook of Clinical Neurology; vol. 113).

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  12. High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase

    Katja M.J. Heitink-Pollé, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt & Marc B. Bierings, 2013 Jan 1, JIMD Reports. Springer Gabler, p. 103-108 6 p. (JIMD Reports; vol. 7).

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

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