Tom J de Koning

Professor
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  1. The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy

    Monique G.M. de Sain-van der Velden, Piero Rinaldo, Bert Elvers, Mick Henderson, John H. Walter, Berthil H.C.M.T. Prinsen, Nanda M. Verhoeven-Duif, Tom J. de Koning & Peter van Hasselt, 2012 Jan 1, JIMD Reports. Springer Gabler, p. 95-99 5 p. (JIMD Reports; vol. 6).

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

  2. 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

  3. Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

    Eugène F. Diekman, Carolien C.A. Boelen, Berthil H.C.M.T. Prinsen, Lodewijk IJlst, Marinus Duran, Tom J. de Koning, Hans R. Waterham, Ronald J.A. Wanders, Frits A. Wijburg & Gepke Visser, 2013 Jan 1, JIMD Reports. Springer Gabler, p. 1-6 6 p. (JIMD Reports; vol. 7).

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

  4. Teaching Video Neuro Images: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C

    Hendriekje Eggink, Rick Brandsma, Johannes H. Van Der Hoeven, Fiete Lange, Tom J. De Koning & Marina A.J. Tijssen, 2016 May 10, In: Neurology. 86, 19, p. e202

    Research output: Contribution to journalDebate/Note/Editorial

  5. Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

    Hendriekje Eggink, Anouk Kuiper, Cathérine C.S. Delnooz, Deborah A. Sival, Tom J. De Koning & Marina A.J. Tijssen, 2016 Jul 1, In: European Journal of Paediatric Neurology. 20, 4, p. 671-673 3 p.

    Research output: Contribution to journalArticle

  6. 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

  7. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

    Hendriekje Eggink, Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Marleen C. Schönherr, Tom J. de Koning, D. L.Marinus Oterdoom, J. Marc C. van Dijk & Marina A.J. Tijssen, 2017 Jan 1, In: Movement Disorders. 32, 1, p. 162-165 4 p.

    Research output: Contribution to journalDebate/Note/Editorial

  8. Reply

    Hannelie M. Engbers, Ruud Berger, Peter Ven Hasselt, Tom De Koning, G. M.de Sain van der Velden Monique, Hester Kroes & Gepke Visser, 2009 Apr 1, In: Annals of Neurology. 65, 4, p. 484

    Research output: Contribution to journalLetter

  9. Yield of additional metabolic studies in neurodevelopmental disorders

    Hannelie M. Engbers, Ruud Berger, Peter Van Hasselt, Tom De Koning, Monique G.M. De Sain-Van Der Velden, Hester Y. Kroes & Gepke Visser, 2008 Aug 1, In: Annals of Neurology. 64, 2, p. 212-217 6 p.

    Research output: Contribution to journalArticle

  10. D-serine influences synaptogenesis in a P19 cell model

    Sabine A. Fuchs, Martin W. Roeleveld, Leo W.J. Klomp, Ruud Berger & Tom J. de Koning, 2012 Jan 1, JIMD Reports. Springer Gabler, p. 47-53 7 p. (JIMD Reports; vol. 6).

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

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