Tom J de Koning

Professor
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  1. 2013
  2. 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

  3. 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

  4. 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

  5. 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

  6. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Maria Veiga-Da-Cunha, Nanda M. Verhoeven-Duif, Tom J. De Koning, Marinus Duran, Bert Dorland & Emile Van Schaftingen, 2013 Nov 1, In: Journal of Inherited Metabolic Disease. 36, 6, p. 961-966 6 p.

    Research output: Contribution to journalArticle

  7. 2014
  8. Periodic fever in MVK deficiency: A patient initially diagnosed with incomplete Kawasaki disease

    Valtyr S. Thors, Sebastiaan J. Vastert, Nico Wulffraat, Annet Van Royen, Joost Frenkel, Monique De Sain-Van Der Velden & Tom J. De Koning, 2014 Jan 1, In: Pediatrics. 133, 2

    Research output: Contribution to journalArticle

  9. Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

    Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Esther A. Nibbeling, Jan Willem J. Elting, Deborah A. Sival, Oebele F. Brouwer, Jeroen J. de Vries, Hubertus P. Kremer, Richard J. Sinke, Marina A. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Movement Disorders. 29, 1, p. 139-143 5 p.

    Research output: Contribution to journalArticle

  10. 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

  11. 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

  12. Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone

    Fatiha Bendadi, Tom J. De Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. De Sain, Nanda Verhoeven-Duif, Gerben Sinnema, Francjan J. Van Spronsen & Peter M. Van Hasselt, 2014 Feb 1, In: Journal of Pediatrics. 164, 2, p. 398-401 4 p.

    Research output: Contribution to journalArticle

  13. Serine synthesis disorders

    Jaak Jaeken & Tom de Koning, 2014 Oct 1, Congenital Neurotransmitter Disorders: A Clinical Approach. Nova Science Publishers, Inc., p. 123-131 9 p.

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

  14. 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

  15. 2015
  16. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: The opportunities and challenges

    Tom J. De Koning, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz & Richard J. Sinke, 2015, In: Expert Review of Molecular Diagnostics. 15, 1, p. 61-70

    Research output: Contribution to journalReview article

  17. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

    Martje E. Van Egmond, Jan Willem J. Elting, Anouk Kuiper, Rodi Zutt, Kirsten R. Heineman, Oebele F. Brouwer, Deborah A. Sival, Michel A. Willemsen, Marina A.J. Tijssen & Tom J. De Koning, 2015 Jan 1, In: European Journal of Paediatric Neurology. 19, 6, p. 726-729 4 p.

    Research output: Contribution to journalArticle

  18. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Gastroenterology and Hepatology. 11, p. 78-79

    Research output: Contribution to journalReview article

  19. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Neurology. 11, p. 78-79

    Research output: Contribution to journalReview article

  20. 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

  21. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

    Mieke Aldenhoven, Robert F. Wynn, Paul J. Orchard, Anne O'Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Benedicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon A. Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico M. Wulffraat, Tom J. De Koning, Elsa G. Shapiro, Joanne Kurtzberg & 1 others, Jaap Jan Boelens, 2015 Mar 26, In: Blood. 125, 13, p. 2164-2172 9 p.

    Research output: Contribution to journalArticle

  22. Dystonia in children and adolescents: A systematic review and a new diagnostic algorithm

    Martje E. Van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J. Sinke, Oebele F. Brouwer, Corien C. Verschuuren-Bemelmans, Deborah A. Sival, Marina A.J. Tijssen & Tom J. De Koning, 2015 Jul 1, In: Journal of Neurology, Neurosurgery and Psychiatry. 86, 7, p. 774-781 8 p.

    Research output: Contribution to journalReview article

  23. Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

    K. J. Peall, A. Kuiper, T. J. de Koning & M. A.J. Tijssen, 2015 Sep, In: Parkinsonism and Related Disorders. 21, 9, p. 1031-1040

    Research output: Contribution to journalReview article

  24. 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

  25. Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma

    J. J. Luykx, S. C. Bakker, W. F. Visser, N. Verhoeven-Duif, J. E. Buizer-Voskamp, J. M. Den Heijer, M. P.M. Boks, J. H. Sul, E. Eskin, A. P. Ori, R. M. Cantor, J. Vorstman, E. Strengman, J. Deyoung, T. H. Kappen, E. Pariama, E. P.A. Van Dongen, P. Borgdorff, P. Bruins, T. J. De Koning & 2 others, R. S. Kahn & R. A. Ophoff, 2015 Dec 1, In: Molecular Psychiatry. 20, 12, p. 1557-1564 8 p.

    Research output: Contribution to journalArticle

  26. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

    Wendy E. Heywood, Stephane Camuzeaux, Ivan Doykov, Nina Patel, Rhian Lauren Preece, Emma Footitt, Maureen Cleary, Peter Clayton, Stephanie Grunewald, Lara Abulhoul, Anupam Chakrapani, Neil J. Sebire, Peter Hindmarsh, Tom J. De Koning, Simon Heales, Derek Burke, Paul Gissen & Kevin Mills, 2015 Dec 15, In: Analytical Chemistry. 87, 24, p. 12238-12244 7 p.

    Research output: Contribution to journalArticle

  27. 2016
  28. Reliability of phenotypic early-onset ataxia assessment: A pilot study

    Tjitske F. Lawerman, Rick Brandsma, Joke T. van Geffen, Roelineke J. Lunsing, Huibert Burger, Marina A.J. Tijssen, Jeroen J. de Vries, Tom J. de Koning & Deborah A. Sival, 2016 Jan 1, In: Developmental Medicine and Child Neurology. 58, 1, p. 70-76 7 p.

    Research output: Contribution to journalArticle

  29. 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