Tom J de Koning

Professor
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  1. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

    L. J.M. Spaapen, J. A. Bakker, C. Velter, W. Loots, M. E. Rubio-Gonzalbo, P. P. Forget, L. Dorland, T. J. De Koning, B. T. Poll-The, H. K. Ploos Van Amstel, J. Bekhof, N. Blau & M. Duran, 2001 Aug 6, In: Journal of Inherited Metabolic Disease. 24, 3, p. 352-358 7 p.

    Research output: Contribution to journalArticle

  2. The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation

    Mieke Aldenhoven, Jaap Jan Boelens & Tom J. de Koning, 2008 May 1, In: Biology of Blood and Marrow Transplantation. 14, 5, p. 485-498 14 p.

    Research output: Contribution to journalReview article

  3. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 Mar 7, In: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Research output: Contribution to journalArticle

  4. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

    Christian J. Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean Christophe Corvol, Tom J. de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik & 7 others, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 May 4, In: Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

    Research output: Contribution to journalArticle

  5. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

    M. Hoeksma, M. van Rijn, P. H. Verkerk, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. J. de Koning, E. Rubio-Gozalbo, M. de Vries, P. J.J. Sauer & F. J. van Spronsen, 2005 Dec 1, In: Journal of Inherited Metabolic Disease. 28, 6, p. 845-854 10 p.

    Research output: Contribution to journalArticle

  6. 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

  7. 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

  8. The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

    Tina Mainka, Athanasia Ziagaki, Tom J. de Koning, Andrea A. Kühn & Christos Ganos, 2020 Nov, In: Movement Disorders Clinical Practice. 7, 8, p. 1004-1006 3 p.

    Research output: Contribution to journalLetter

  9. Treatable inherited rare movement disorders

    H. A. Jinnah, Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J. de Koning, Alberto J. Espay, Victor Fung, Pedro J. Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M. Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C. Rodriguez Oroz, Mayela Rodríguez-Violante & 7 others, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M. Gatto & for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders, 2018 Jan 1, In: Movement Disorders. 33, 1, p. 21-35 15 p.

    Research output: Contribution to journalReview article

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

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