Tom J de Koning

Professor
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  1. 2005
  2. D-Amino acids in the central nervous system in health and disease

    Sabine A. Fuchs, Ruud Berger, Leo W.J. Klomp & Tom J. De Koning, 2005 Jan 1, In: Molecular Genetics and Metabolism. 85, 3, p. 168-180 13 p.

    Research output: Contribution to journalReview article

  3. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

    M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin & Guy T.N. Besley, 2005 Jan 1, In: Journal of Inherited Metabolic Disease. 28, 5, p. 673-679 7 p.

    Research output: Contribution to journalArticle

  4. 2004
  5. Glutathione synthetase deficiency associated with antenatal cerebral bleeding

    L. W. Br̈ggemann, F. Groenendaal, E. Ristoff, A. Larsson, M. Duran, J. A.C. van Lier, L. Dorland, R. Berger & T. J. de Koning, 2004 Jun 23, In: Journal of Inherited Metabolic Disease. 27, 2, p. 275-276 2 p.

    Research output: Contribution to journalArticle

  6. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

    Angelique B.C. Roeleveld-Versteegh, K. P.J. Braun, J. A.M. Smeitink, L. Dorland & T. J. de Koning, 2004 Jun 23, In: Journal of Inherited Metabolic Disease. 27, 2, p. 281-283 3 p.

    Research output: Contribution to journalArticle

  7. Energy expenditure in patients with propionic and methylmalonic acidaemias

    C. C. van Hagen, E. Carbasius Weber, Th A.M. van den Hurk, J. H. Oudshoorn, L. Dorland, R. Berger & T. de Koning, 2004 Apr 13, In: Journal of Inherited Metabolic Disease. 27, 1, p. 111-112 2 p.

    Research output: Contribution to journalArticle

  8. Serine-deficiency syndromes

    Tom J. De Koning & Leo W.J. Klomp, 2004 Apr 1, In: Current Opinion in Neurology. 17, 2, p. 197-204 8 p.

    Research output: Contribution to journalReview article

  9. Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik

    Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom De Koning, Kurt Von Figura, Ludwig Lehle & Christian Körner, 2004 Jan 1, In: American Journal of Human Genetics. 74, 3, p. 472-481 10 p.

    Research output: Contribution to journalArticle

  10. 2003
  11. Serinedeficiëntie

    T. J. De Koning, L. W J Klomp, I. E T Van Den Berg, L. Dorland & R. Berger, 2003 Nov 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 28, 6, p. 325-328 4 p.

    Research output: Contribution to journalArticle

  12. De zuigeling met een vitamine-k-deficiëntiebloeding ondanks adequate profylaxe

    J. G. Van Lookeren Campagne, P. M. Van Hasselt, R. H.J. Houwen, A. T.H. Van Dijk & T. J. De Koning, 2003 Oct 18, In: Nederlands Tijdschrift voor Geneeskunde. 147, 42, p. 2085-2086 2 p.

    Research output: Contribution to journalLetter

  13. L-serine in disease and development

    Tom J. De Koning, Keith Snell, Marinus Duran, Ruud Berger, Bwee Tien Poll-The & Robert Surtees, 2003 May 1, In: Biochemical Journal. 371, 3, p. 653-661 9 p.

    Research output: Contribution to journalReview article

  14. De zuigeling met een vitamine-K-deficiëntiebloeding ondanks adequate profylaxe

    P. M. Van Hasselt, R. H.J. Houwen, A. T.H. Van Dijk & T. J. De Koning, 2003 Apr 19, In: Nederlands Tijdschrift voor Geneeskunde. 147, 16, p. 737-740 4 p.

    Research output: Contribution to journalArticle

  15. 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

  16. 2002
  17. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

    J. C.M. Baas, R. van de Laar, L. Dorland, M. Duran, R. Berger, B. T. Poll-The & T. J. de Koning, 2002 Dec 1, In: Journal of Inherited Metabolic Disease. 25, 8, p. 699-701 3 p.

    Research output: Contribution to journalArticle

  18. Glutaric aciduria type III: A distinctive non-disease?

    I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T. J. De Koning, P. Müller, E. Christensen, F. K. Trefz, G. F. Wündisch, W. Rascher & G. F. Hoffman, 2002 Oct 1, In: Journal of Inherited Metabolic Disease. 25, 6, p. 483-490 8 p.

    Research output: Contribution to journalArticle

  19. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken & B. T. Poll-The, 2002 Jul 9, In: Journal of Inherited Metabolic Disease. 25, 2, p. 119-125 7 p.

    Research output: Contribution to journalArticle

  20. 3-Phosphoglyceraat dehydrogenase in disease and development

    Tom J. De Koning, 2002 Jan 1, In: Tijdschrift voor Kindergeneeskunde. 70, 3, 1 p.

    Research output: Contribution to journalDebate/Note/Editorial

  21. 2001
  22. 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

  23. Isolated glycerol kinase deficiency and fanconi anemia [1]

    D. R. Sjarif, T. Révész, T. J. de Koning, M. Duran, F. A. Beemer & B. T. Poll-The, 2001 Mar 1, In: American Journal of Medical Genetics. 99, 2, p. 159-160 2 p.

    Research output: Contribution to journalLetter

  24. 2000
  25. CDG type 1B: Kliniek, diagnostiek en behandeling

    T. J. De Koning, 2000 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 68, SUPPL. 1, p. 51-51 1 p.

    Research output: Contribution to journalArticle

  26. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

    T. J. De Koning, J. Jaeken, M. Pineda, L. Van Maldergem, B. T. Poll-The & M. S. Van der Knaap, 2000 Dec 1, In: Neuropediatrics. 31, 6, p. 287-292 6 p.

    Research output: Contribution to journalArticle

  27. Hyperketonaemia in glycerol kinase deficiency

    D. R. Sjarif, L. Dorland, W. Sperl, T. J. De Koning, F. A. Beemer, B. T. Poll-The & M. Duran, 2000 Nov 29, In: Journal of Inherited Metabolic Disease. 23, 7, p. 760-764 5 p.

    Research output: Contribution to journalArticle

  28. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

    E. Schollen, L. Dorland, T. J. De Koning, O. P. Van Diggelen, J. G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze & G. Matthijs, 2000 Sep, In: Human Mutation. 16, 3, p. 247-252

    Research output: Contribution to journalArticle

  29. Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome

    B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis, M. Duran, T. J. De Koning, L. Dorland, M. M.J. De Barse, G. J. Romeijn, R. J.A. Wanders & H. R. Waterham, 2000 Jun 27, In: Journal of Inherited Metabolic Disease. 23, 4, p. 363-366 4 p.

    Research output: Contribution to journalArticle

  30. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

    T. J. De Koning, P. G.J. Nikkels, L. Dorland, J. Bekhof, J. E.A.R. De Schrijver, J. Van Hattum, O. P. Van Diggelen, M. Duran, R. Berger & B. T. Poll-The, 2000 Jan 1, In: Virchows Archiv. 437, 1, p. 101-105 5 p.

    Research output: Contribution to journalArticle

  31. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

    Leo W.J. Klomp, Tom J. De Koning, Helga E.M. Malingré, Ellen A.C.M. Van Beurden, Miny Brink, Frans L. Opdam, Marinus Duran, Jaak Jaeken, Merce Pineda, Lionel Van Maldergem, Bwee Tien Poll-The, Inge E.T. Van den Berg & Ruud Berger, 2000 Jan 1, In: American Journal of Human Genetics. 67, 6, p. 1389-1399 11 p.

    Research output: Contribution to journalArticle