Tom J de Koning

Professor
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  1. 2006
  2. Disorders of GABA, glycine, serine, and proline

    Jaak Jaeken & Tom J. De Koning, 2006 Dec 1, Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer, p. 43-48 6 p.

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

  3. 2007
  4. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.

    M. A. Benninga, M. Lilien, T. J. de Koning, M. Duran, F. G. Versteegh, R. Goldschmeding & B. T. Poll-The, 2007 Jan 1, In: Journal of Inherited Metabolic Disease. 30, 3, p. 402-403 2 p.

    Research output: Contribution to journalArticle

  5. Quantification of free and total sialic acid excretion by LC-MS/MS

    Maria van der Ham, Berthil H.C.M.T. Prinsen, Jan G.M. Huijmans, Nicolaas G.G.M. Abeling, Bert Dorland, Ruud Berger, Tom J. de Koning & Monique G.M. de Sain-van der Velden, 2007 Apr 1, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 848, 2, p. 251-257 7 p.

    Research output: Contribution to journalArticle

  6. 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

  7. Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia

    M. P.M. Boks, T. Rietkerk, M. H. van de Beek, I. E. Sommer, T. J. de Koning & R. S. Kahn, 2007 Sep 1, In: European Neuropsychopharmacology. 17, 9, p. 567-572 6 p.

    Research output: Contribution to journalReview article

  8. 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

  9. Serine, glycine, and threonine

    T. J. De Koning, S. A. Fuchs & L. W.J. Klomp, 2007 Dec 1, Handbook of Neurochemistry and Molecular Neurobiology: Amino Acids and Peptides in the Nervous System. Springer, p. 23-45 23 p.

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

  10. 2008
  11. Prevention of vitamin k deficiency bleeding in breastfed infants: lessons from the dutch and danish biliary atresia registries

    Peter M. Van Hasselt, Tom J. De Koning, Nina Kvist, Elsemieke De Vries, Christina Rydahl Lundin, Ruud Berger, Jan L.L. Kimpen, Roderick H.J. Houwen, Marianne Horby Jorgensen & Henkjan J. Verkade, 2008 Apr 1, In: Pediatrics. 121, 4, p. e857-e863

    Research output: Contribution to journalArticle

  12. Cerebrospinal fluid d-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients

    Sabine A. Fuchs, Martina M.J. De Barse, Floor E. Scheepers, Wiepke Cahn, Lambertus Dorland, Monique G. de Sain-van der Velden, Leo W.J. Klomp, Ruud Berger, René S. Kahn & Tom J. de Koning, 2008 May 1, In: European Neuropsychopharmacology. 18, 5, p. 333-338

    Research output: Contribution to journalArticle

  13. 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

  14. A new, sensitive LC-MS/MS assay for quantification of uric acid in urine

    M. Van Der Ham, B. H.C.M.T. Prinsen, I. M.L.W. Keularts, J. Bierau, T. J. De Koning & M. G.M. De Sain-van Der Velden, 2008 Jul 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 33, 3, p. 175-176 2 p.

    Research output: Contribution to journalArticle

  15. 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

  16. Navelstrengbloed van een onverwante donor als bron voor stamceltransplantaties bij aangeboren stofwisselingsziekten

    M. Aldenhoven, T. J. De Koning, N. M. Wulffraat & J. J. Boelens, 2008 Aug 2, In: Nederlands Tijdschrift voor Geneeskunde. 152, 31, p. 1719-1724 6 p.

    Research output: Contribution to journalReview article

  17. 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

  18. A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients: Insight into Estimation or Measurement of Dietary Intake

    Margreet van Rijn, Jolanda Jansma, Aeltsje Brinksma, H. D. Bakker, G. H.J. Boers, E. Carbasius-Weber, A. C. Douwes, A. van den Herberg, N. M. ter Horst, J. B.C. de Klerk, T. J. de Koning, L. van den Ploeg, M. E. Rubio-Gozalbo, J. P. Sels, R. C.A. Sengers, H. W. de Valk, H. Termeulen, H. Zweers & Francjan J. van Spronsen, 2008 Oct 1, In: Journal of the American Dietetic Association. 108, 10, p. 1704-1707

    Research output: Contribution to journalArticle

  19. 2009
  20. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

    F. J. van Spronsen, M. Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. de Koning, M. Estela Rubio-Gozalbo, M. de Vries & P. H. Verkerk, 2009 Feb, In: Journal of Inherited Metabolic Disease. 32, 1, p. 27-31

    Research output: Contribution to journalArticle

  21. Reply

    Hannelie M. Engbers, Ruud Berger, Peter Ven Hasselt, Tom De Koning, G. M.de Sain van der Velden Monique, Hester Kroes & Gepke Visser, 2009 Apr 1, In: Annals of Neurology. 65, 4, p. 484

    Research output: Contribution to journalLetter

  22. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

    L. Tabatabaie, T. J. De Koning, A. J.J.M. Geboers, I. E.T. Van Den Berg, R. Berger & L. W.J. Klomp, 2009 May 1, In: Human Mutation. 30, 5, p. 749-756 8 p.

    Research output: Contribution to journalArticle

  23. In response to van Spronsen et al

    F. J. van Spronsen, M. van Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. de Koning, M. E. Rubio-Gozalbo, M. de Vries & P. H. Verkerk, 2009 Aug, In: Journal of Inherited Metabolic Disease. 32, 4, p. 585-586

    Research output: Contribution to journalLetter

  24. 3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures

    Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloǧlu, Haluk Topaloǧlu, Kader Karli-Oǧuz & Tom J. De Koning, 2009 Nov 1, In: Turkish Journal of Pediatrics. 51, 6, p. 587-592 6 p.

    Research output: Contribution to journalArticle

  25. Musculoskeletal manifestations of lysosomal storage disorders

    M. Aldenhoven, R. J.B. Sakkers, J. Boelens, T. J. De Koning & N. M. Wulffraat, 2009 Nov 1, In: Annals of the Rheumatic Diseases. 68, 11, p. 1659-1665

    Research output: Contribution to journalReview article

  26. 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

  27. 2010
  28. Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

    Bianca T. van Maldegem, Marinus Duran, Ronald J.A. Wanders, Hans R. Waterham, Tom J. de Koning, Estela Rubio & Frits A. Wijburg, 2010 Jan 1, In: Journal of Pediatrics. 156, 1, p. 121-127

    Research output: Contribution to journalArticle

  29. Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Marjan E. Steenweg, Adeline Vanderver, Susan Blaser, Alberto Bizzi, Tom J. De Koning, Grazia M.S. Mancini, Wessel N. Van Wieringen, Frederik Barkhof, Nicole I. Wolf & Marjo S. Van Der Knaap, 2010 Jan 1, In: Brain. 133, 10, p. 2971-2982 12 p.

    Research output: Contribution to journalArticle

  30. Presenterende symptomen bij het syndroom van Hurler: Handvatten voor een eerdere diagnose?

    C. M.L. Touw, M. Aldenhoven, P. M. Van Hasselt, F. A. Wijburg, Q. Teunissen, A. T. Van Der Ploeg, M. F. Mulder, J. J. Boelens & T. J. De Koning, 2010 Jan 1, In: Tijdschrift voor Kindergeneeskunde. 78, 4, p. 149-154 6 p.

    Research output: Contribution to journalArticle