Tom J de Koning

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  1. 2010
  2. 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

  3. l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

    L. Tabatabaie, L. W. Klomp, R. Berger & T. J. de Koning, 2010 Mar 1, In: Molecular Genetics and Metabolism. 99, 3, p. 256-262

    Research output: Contribution to journalReview article

  4. Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

    Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden & Jaap Jan Boelens, 2010 May 1, In: Biology of Blood and Marrow Transplantation. 16, 5, p. 701-704 4 p.

    Research output: Contribution to journalArticle

  5. Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

    Maria van der Ham, Tom J. de Koning, Dirk Lefeber, André Fleer, Berthil H.C.M.T. Prinsen & Monique G.M. de Sain-van der Velden, 2010 May 1, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 878, 15-16, p. 1098-1102 5 p.

    Research output: Contribution to journalArticle

  6. Fatal cerebral edema associated with serine deficiency in CSF

    I. M.L.W. Keularts, E. M. Rubio-Gozalbo, L. J.M. Spaapen, L. Dorland, T. J. De Koning & N. M. Verhoeven-Duif, 2010 Jul 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 35, 3, p. 189-191 3 p.

    Research output: Contribution to journalArticle

  7. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

    Jürgen Lübbehusen, Christian Thiel, Nina Rind, Daniel Ungar, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt & Christian Körner, 2010 Sep 15, In: Human Molecular Genetics. 19, 18, p. 3623-3633

    Research output: Contribution to journalArticle

  8. Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

    Stuart Moat, Rachel Carling, Authur Nix, Michael Henderson, Anthony Briddon, Helen Prunty, Roy Talbot, Annette Powell, Katherine Wright, Sabine Fuchs & Tom de Koning, 2010 Oct 1, In: Molecular Genetics and Metabolism. 101, 2-3, p. 149-152 4 p.

    Research output: Contribution to journalArticle

  9. Fatal cerebral edema associated with serine deficiency in CSF

    Irene M.L.W. Keularts, Piet L.J.M. Leroy, Estela M. Rubio-Gozalbo, Leo J.M. Spaapen, Biene Weber, Bert Dorland, Tom J. De Koning & Nanda M. Verhoeven-Duif, 2010 Dec, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3, p. 181-185

    Research output: Contribution to journalArticle

  10. Hydrolysed formula is a risk factor for vitamin K deficiency in infants with unrecognised cholestasis

    P. M. Van Hasselt, W. De Vries, E. De Vries, K. Kok, E. C.M. Cranenburg, T. J. De Koning, L. J. Schurgers, H. J. Verkade & R. H.J. Houwen, 2010 Dec 1, In: Journal of Pediatric Gastroenterology and Nutrition. 51, 6, p. 773-776 4 p.

    Research output: Contribution to journalArticle

  11. 2011
  12. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

    L. Tabatabaie, L. W.J. Klomp, M. E. Rubio-Gozalbo, L. J.M. Spaapen, A. A.M. Haagen, L. Dorland & T. J. De Koning, 2011 Feb 1, In: Journal of Inherited Metabolic Disease. 34, 1, p. 181-184 4 p.

    Research output: Contribution to journalArticle

  13. Metabolic profiles in children during fasting

    Merel R. Van Veen, Peter M. Van Hasselt, Monique G.M. De Sain-van Der Velden, Nanda Verhoeven, Floris C. Hofstede, Tom J. De Koning & Gepke Visser, 2011 Apr 1, In: Pediatrics. 127, 4

    Research output: Contribution to journalArticle

  14. Intracranial bleeding due to vitamin K deficiency: Advantages of using a pediatric intensive care registry

    Désirée Y. Visser, Nicolaas J. Jansen, Marloes M. Ijland, Tom J. De Koning & Peter M. Van Hasselt, 2011 Jun 1, In: Intensive Care Medicine. 37, 6, p. 1014-1020 7 p.

    Research output: Contribution to journalArticle

  15. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: A systematic review

    Marleen H. Van Der Linden, Moyo C. Kruyt, Ralph J.B. Sakkers, Tom J. De Koning, F. Cumhur Öner & René M. Castelein, 2011 Jun 1, In: Journal of Inherited Metabolic Disease. 34, 3, p. 657-669

    Research output: Contribution to journalReview article

  16. D-Serine: The right or wrong isoform?

    Sabine A. Fuchs, Ruud Berger & Tom J. De Koning, 2011 Jul 15, In: Brain Research. 1401, p. 104-117

    Research output: Contribution to journalReview article

  17. A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

    Wouter F. Visser, Nanda M. Verhoeven-Duif, Roel Ophoff, Steven Bakker, Leo W. Klomp, Ruud Berger & Tom J. De Koning, 2011 Oct 7, In: Journal of Chromatography A. 1218, 40, p. 7130-7136 7 p.

    Research output: Contribution to journalArticle

  18. 2012
  19. 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

  20. Neurodegeneration with brain iron accumulation on MRI: An adult case of α-mannosidosis

    Evelien Zoons, Tom J. de Koning, Nico G.G.M. Abeling & Marina A.J. Tijssen, 2012 Jan 1, JIMD Reports. Springer Gabler, p. 99-102 4 p. (JIMD Reports; vol. 4).

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

  21. 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

  22. Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry

    M. Vander Ham, M. Albersen, T. J. de Koning, G. Visser, A. Middendorp, M. Bosma, N. M. Verhoeven-Duif & M. G.M. De Sain-van der Velden, 2012 Jan 27, In: Analytica Chimica Acta. 712, p. 108-114 7 p.

    Research output: Contribution to journalArticle

  23. Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes

    Wouter F. Visser, Nanda M. Verhoeven-Duif & Tom J. De Koning, 2012 Jun 22, In: Journal of Biological Chemistry. 287, 26, p. 21654-21662

    Research output: Contribution to journalArticle

  24. Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: A potential novel treatment target for perinatal asphyxia

    Sabine A. Fuchs, Cacha M.P.C.D. Peeters-Scholte, Martina M.J. De Barse, Martin W. Roeleveld, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2012 Jul 1, In: Amino Acids. 43, 1, p. 355-363 9 p.

    Research output: Contribution to journalArticle

  25. 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

  26. A common variant in ERBB4 regulates gaba concentrations in human cerebrospinal fluid

    Jurjen J. Luykx, Christiaan H. Vinkers, Steven C. Bakker, Wouter F. Visser, Loes Van Boxmeer, Eric Strengman, Kristel R. Van Eijk, Judith A. Lens, Paul Borgdorff, Peter Keijzers, Teus H. Kappen, Eric P.A. Van Dongen, Peter Bruins, Nanda M. Verhoeven, Tom J. De Koning, René S. Kahn & Roel A. Ophoff, 2012 Aug 1, In: Neuropsychopharmacology. 37, 9, p. 2088-2092 5 p.

    Research output: Contribution to journalArticle

  27. 2013
  28. Amino acid synthesis deficiencies

    T. J. De Koning, 2013 Jan 1, Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V., p. 1775-1783 9 p. (Handbook of Clinical Neurology; vol. 113).

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

  29. High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase

    Katja M.J. Heitink-Pollé, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt & Marc B. Bierings, 2013 Jan 1, JIMD Reports. Springer Gabler, p. 103-108 6 p. (JIMD Reports; vol. 7).

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