Tom J de Koning

Professor
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  1. Treatment of ARS deficiencies with specific amino acids

    Gautam Kok, Laura Tseng, Imre F. Schene, Monique E. Dijsselhof, Gajja Salomons, Marisa I. Mendes, Desiree E.C. Smith, Arnaud Wiedemann, Marie Canton, François Feillet, Tom J. de Koning, Megan Boothe, Joy Dean, Rachel Kassel, Elise A. Ferreira, Margreet van den Born, Edward E.S. Nieuwenhuis, Holger Rehmann, Suzanne W.J. Terheggen-Lagro, Clara D.M. van Karnebeek & 1 others, Sabine A. Fuchs, 2021, (Accepted/In press) In: Genetics in Medicine.

    Research output: Contribution to journalArticle

  2. Treatment with amino acids in serine deficiency disorders

    T. J. de Koning, 2006 Apr 1, In: Journal of Inherited Metabolic Disease. 29, 2-3, p. 347-351 5 p.

    Research output: Contribution to journalArticle

  3. Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: Potential confounders and age-dependent ranges

    Sabine A. Fuchs, Monique G.M. De Sain-van Der Velden, Martina M.J. De Barse, Martin W. Roeleveld, Margriet Hendriks, Lambertus Dorland, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2008 Aug 9, In: Clinical Chemistry. 54, 9, p. 1443-1450

    Research output: Contribution to journalArticle

  4. Unexplained epileptic encephalopathy: Consider and reconsider pyridoxine dependent seizures

    Steven P. Claus, Kees P.J. Braun, Lambertus Dorland, Mireille Bourrez-Swart, Onno Van Nieuwenhuizen & Tom J. De Koning, 2003 Jan 1, In: Journal of Pediatric Neurology. 1, 1, p. 51-53 3 p.

    Research output: Contribution to journalLetter

  5. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Esther A.R. Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen & Dineke S. Verbeek, 2017 Apr 1, In: Neuroscience and Biobehavioral Reviews. 75, p. 22-39

    Research output: Contribution to journalReview article

  6. Van gen naar ziekte; de ziekte van Menkes: Koperdeficiëntie door een ATP7A-gendefect

    M. Aldenhoven, L. W. Klomp, P. M. Van Hasselt, T. J. De Koning & G. Visser, 2007 Oct 13, In: Nederlands Tijdschrift voor Geneeskunde. 151, 41, p. 2266-2270 5 p.

    Research output: Contribution to journalReview article

  7. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

    Martje E. van Egmond, Maria Fiorella Contarino, Coen H.A. Lugtenberg, Kathryn J. Peall, Oebele F. Brouwer, Victor S.C. Fung, Emmanuel Roze, Roy E. Stewart, Michel A. Willemsen, Nicole I. Wolf, Tom J. de Koning & Marina A. Tijssen, 2019 Mar, In: Movement Disorders. 34, 3, p. 317-320

    Research output: Contribution to journalArticle

  8. Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants

    Monique Albersen, Floris Groenendaal, Maria Der Van Ham, Tom J. De Koning, Marjolein Bosma, Wouter F. Visser, Gepke Visser, Monique G.M. De Sain-van Der Velden & Nanda M. Verhoeven-Duif, 2012 Jul 1, In: Pediatrics. 130, 1

    Research output: Contribution to journalArticle

  9. Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency

    P. M. Van Hasselt, K. Kok, A. D.M. Vorselaars, L. Van Vlerken, E. Nieuwenhuys, T. J. De Koning, R. A. De Vries & R. H.J. Houwen, 2009 Nov 1, In: Archives of Disease in Childhood: Fetal and Neonatal Edition. 94, 6

    Research output: Contribution to journalArticle

  10. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage

    Monique Albersen, Marjolein Bonthuis, Nicole M. De Roos, Dorine A.M. Van Den Hurk, Ems Carbasius Weber, Margriet M.W.B. Hendriks, Monique G.M. De Sain-Van Der Velden, Tom J. De Koning & Gepke Visser, 2010 Jan 1, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3

    Research output: Contribution to journalArticle