Tom J de Koning

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  1. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

    T. J. De Koning, P. G.J. Nikkels, L. Dorland, J. Bekhof, J. E.A.R. De Schrijver, J. Van Hattum, O. P. Van Diggelen, M. Duran, R. Berger & B. T. Poll-The, 2000 Jan 1, In: Virchows Archiv. 437, 1, p. 101-105 5 p.

    Research output: Contribution to journalArticle

  2. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken & B. T. Poll-The, 2002 Jul 9, In: Journal of Inherited Metabolic Disease. 25, 2, p. 119-125 7 p.

    Research output: Contribution to journalArticle

  3. Continuing education in neurometabolic disorders - Serine deficiency disorders

    T. J. De Koning, B. T. Poll-The & J. Jaeken, 1999 Jan 1, In: Neuropediatrics. 30, 1, p. 1-4 4 p.

    Research output: Contribution to journalReview article

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

    Martje E. van Egmond, Anouk Kuiper, Jan Willem J. Elting, Oebele F. Brouwer, Tom J. de Koning & Marina A.J. Tijssen, 2015 Mar 1, In: Movement Disorders Clinical Practice. 2, 1, p. 61-63 3 p.

    Research output: Contribution to journalArticle

  5. Cranial ultrasound in metabolic disorders presenting in the neonatal period: Characteristic features and comparison with MR imaging

    L. M. Leijser, L. S. De Vries, M. A. Rutherford, A. Y. Manzur, F. Groenendaal, T. J. De Koning, M. Van Der Heide-Jalving & Frances M. Cowan, 2007 Aug 1, In: American Journal of Neuroradiology. 28, 7, p. 1223-1231 9 p.

    Research output: Contribution to journalReview article

  6. Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

    Martje E van Egmond, Hendriekje Eggink, Anouk Kuiper, Deborah A Sival, Corien C Verschuuren-Bemelmans, Marina A J Tijssen & Tom J de Koning, 2018 Apr 6, In: Journal of clinical movement disorders. 5, 3.

    Research output: Contribution to journalArticle

  7. 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

  8. D-Amino acids in the central nervous system in health and disease

    Sabine A. Fuchs, Ruud Berger, Leo W.J. Klomp & Tom J. De Koning, 2005 Jan 1, In: Molecular Genetics and Metabolism. 85, 3, p. 168-180 13 p.

    Research output: Contribution to journalReview article

  9. Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik

    Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom De Koning, Kurt Von Figura, Ludwig Lehle & Christian Körner, 2004 Jan 1, In: American Journal of Human Genetics. 74, 3, p. 472-481 10 p.

    Research output: Contribution to journalArticle

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