Tom J de Koning

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  1. A novel diagnostic approach to patients with myoclonus

    Rodi Zutt, Martje E. Van Egmond, Jan Willem Elting, Peter Jan Van Laar, Oebele F. Brouwer, Deborah A. Sival, Hubertus P. Kremer, Tom J. De Koning & Marina A. Tijssen, 2015 Dec 1, In: Nature Reviews Neurology. 11, p. 687-697

    Research output: Contribution to journalReview article

  2. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

    T. J. De Koning, L. Dorland, O. P. Van Diggelen, A. M.C. Boonman, G. J. De Jong, W. L. Van Noort, Jear De Schryver, M. Duran, I. E.T. Van Den Berg, G. J. Gerwig, R. Berger & B. T. Poll-The, 1998 Apr 7, In: Biochemical and Biophysical Research Communications. 245, 1, p. 38-42 5 p.

    Research output: Contribution to journalArticle

  3. 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

  4. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen & Tom J. de Koning, 2017 Apr 1, In: Movement Disorders. 32, 4, p. 569-575 7 p.

    Research output: Contribution to journalArticle

  5. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

    Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M.A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen & Terry G.J. Derks, 2018 Dec, In: Journal of Inherited Metabolic Disease. 41, 6, p. 929-936

    Research output: Contribution to journalArticle

  6. Arteriovenous malformation of the vein of Galen in three neonates: Emphasis on associated early ischaemic brain damage

    T. J. De Koning, R. Goosketis, R. Veenhoven, E. J. Meijboom, G. H. Jansen, P. Lasjaunias & L. S. De Vries, 1997 Mar 11, In: European Journal of Pediatrics. 156, 3, p. 228-229 2 p.

    Research output: Contribution to journalArticle

  7. A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

    Wouter F. Visser, Nanda M. Verhoeven-Duif, Roel Ophoff, Steven Bakker, Leo W. Klomp, Ruud Berger & Tom J. De Koning, 2011 Oct 7, In: Journal of Chromatography A. 1218, 40, p. 7130-7136 7 p.

    Research output: Contribution to journalArticle

  8. Assessment of speech in early-onset ataxia: A pilot study

    Marieke J. Kuiper, Rick Brandsma, Tjitske F. Lawerman, Roelineke J. Lunsing, Anne L. Keegstra, Huibert Burger, Tom J. De Koning, Marina A.J. Tijssen & Deborah A. Sival, 2014 Dec 1, In: Developmental Medicine and Child Neurology. 56, 12, p. 1202-1206 5 p.

    Research output: Contribution to journalArticle

  9. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

    S. Wortmann, R. J.T. Rodenburg, M. Huizing, F. J. Loupatty, T. de Koning, L. A.J. Kluijtmans, U. Engelke, R. Wevers, J. A.M. Smeitink & E. Morava, 2006 May 1, In: Molecular Genetics and Metabolism. 88, 1, p. 47-52 6 p.

    Research output: Contribution to journalArticle

  10. A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients: Insight into Estimation or Measurement of Dietary Intake

    Margreet van Rijn, Jolanda Jansma, Aeltsje Brinksma, H. D. Bakker, G. H.J. Boers, E. Carbasius-Weber, A. C. Douwes, A. van den Herberg, N. M. ter Horst, J. B.C. de Klerk, T. J. de Koning, L. van den Ploeg, M. E. Rubio-Gozalbo, J. P. Sels, R. C.A. Sengers, H. W. de Valk, H. Termeulen, H. Zweers & Francjan J. van Spronsen, 2008 Oct 1, In: Journal of the American Dietetic Association. 108, 10, p. 1704-1707

    Research output: Contribution to journalArticle

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