Tom J de Koning

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  1. 1995
  2. Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

    T. J. De Koning, L. A. Sandkuijl, J. E.A.R. De Schryver, E. A.M. Hennekam, F. A. Beemer & R. H.J. Houwen, 1995 Jul 3, In: American Journal of Medical Genetics. 57, 3, p. 479-482 4 p.

    Research output: Contribution to journalArticle

  3. 1996
  4. Fat as compared to glucose improves mitochondrial performance in a disorder of the respiratory chain (complex i deficiency)

    K. de Meer, J. A.L. Jeneson, T. J. de Koning, B. T. Poll & R. Berger, 1996 Jan 1, In: Journal of Pediatric Gastroenterology and Nutrition. 22, 4, 1 p.

    Research output: Contribution to journalArticle

  5. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring [2]

    T. J. De Koning, M. Duran, L. Dorland, R. Berger & B. T. Poll-The, 1996 Jan 1, In: The Lancet. 348, 9031, p. 887-888 2 p.

    Research output: Contribution to journalLetter

  6. Acute maagdilatatie en A. mesenterica superior-syndroom bij zwakzinnigen

    T. J. De Koning, C. Van Schie En & J. J.J. Waelkens, 1996 Sep 28, In: Nederlands Tijdschrift voor Geneeskunde. 140, 39, p. 1960-1963 4 p.

    Research output: Contribution to journalArticle

  7. Congenitale microcefalie en milde maternale 3-methylglutaconacidurie

    T. J. De Koning, M. Duran, L. Dorland, R. Berger & B. T. Poll, 1996 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 64, SUPPL. 1, p. 51-52 2 p.

    Research output: Contribution to journalArticle

  8. 1997
  9. Arteriovenous malformation of the vein of Galen in three neonates: Emphasis on associated early ischaemic brain damage

    T. J. De Koning, R. Goosketis, R. Veenhoven, E. J. Meijboom, G. H. Jansen, P. Lasjaunias & L. S. De Vries, 1997 Mar 11, In: European Journal of Pediatrics. 156, 3, p. 228-229 2 p.

    Research output: Contribution to journalArticle

  10. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

    J. Jaeken, J. Artigas, R. Barone, A. Fiumara, T. J. De Koning, B. T. Poll-The, J. F. De Rijk-Van Andel, G. F. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M. A. Vilaseca, J. M. Saudubray, B. Schlüter, R. Wevers & E. Van Schaftingen, 1997 Sep 4, In: Journal of Inherited Metabolic Disease. 20, 3, p. 447-449 3 p.

    Research output: Contribution to journalArticle

  11. 1998
  12. Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?

    I. Kerckaert, T. J. De Koning, B. T. Poll-The & F. Roels, 1998 Jan 1, In: Journal of Inherited Metabolic Disease. 21, 3, p. 186-190 5 p.

    Research output: Contribution to journalArticle

  13. Peroxisomal disorders

    Bwee Tien Poll-The, Tom J. De Koning, Lambertus Dorland & Marinus Duran, 1998 Mar 1, In: Neuroscience Research Communications. 22, 2, p. 63-71 9 p.

    Research output: Contribution to journalReview article

  14. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

    T. J. De Koning, L. Dorland, O. P. Van Diggelen, A. M.C. Boonman, G. J. De Jong, W. L. Van Noort, Jear De Schryver, M. Duran, I. E.T. Van Den Berg, G. J. Gerwig, R. Berger & B. T. Poll-The, 1998 Apr 7, In: Biochemical and Biophysical Research Communications. 245, 1, p. 38-42 5 p.

    Research output: Contribution to journalArticle

  15. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

    Tom J. De Koning, Marinus Duran, Lambertus Dorland, Rob Gooskens, Emile Van Schaftingen, Jaak Jacken, Nenad Blau, Ruud Berger & Bwee Tien Poll-The, 1998 Aug 1, In: Annals of Neurology. 44, 2, p. 261-265 5 p.

    Research output: Contribution to journalArticle

  16. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

    T. J. De Koning, M. Toet, L. Dorland, L. S. De Vries, I. E.T. Van Den Berg, M. Duran & B. T. Poll-The, 1998 Sep 28, In: Journal of Inherited Metabolic Disease. 21, 6, p. 681-682 2 p.

    Research output: Contribution to journalArticle

  17. Beenmergtransplantatie bij X-linked adrenoleukodystrofie

    A. B.C. Roeleveld-Versteegh, T. J. De Koning, N. M. Wulffraat, W. Kuis, M. Jansen, J. H. Scheewe & B. T. Poll, 1998 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 66, SUPPL. 1, p. 60-61 2 p.

    Research output: Contribution to journalArticle

  18. 1999
  19. Continuing education in neurometabolic disorders - Serine deficiency disorders

    T. J. De Koning, B. T. Poll-The & J. Jaeken, 1999 Jan 1, In: Neuropediatrics. 30, 1, p. 1-4 4 p.

    Research output: Contribution to journalReview article

  20. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

    Sander M. Houten, Wietse Kuis, Marinus Duran, Tom J. De Koning, Annet Van Royen-Kerkhof, Gerrit J. Romeijn, Joost Frenkel, Lambertus Dorland, Martina M.J. De Barse, Wim A.R. Huijbers, Ger T. Rijkers, Hans R. Waterham, Ronald J.A. Wanders & Bwee Tien Poll-The, 1999 Jan 1, In: Nature Genetics. 22, 2, p. 175-177 3 p.

    Research output: Contribution to journalArticle

  21. Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy: Editorial

    T. J. De Koning, L. Dorland & G. P. Van Berge Henegouwen, 1999 Jan 1, In: Journal of Hepatology. 31, 3, p. 557-560 4 p.

    Research output: Contribution to journalDebate/Note/Editorial

  22. Pontocerebellar hypoplasia associated with respiratory-chain defects

    T. J. De Koning, L. S. De Vries, F. Groenendaal, W. Ruitenbeek, G. H. Jansen, B. T. Poll-The & P. G. Barth, 1999 Jan 1, In: Neuropediatrics. 30, 2, p. 93-95 3 p.

    Research output: Contribution to journalArticle

  23. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

    M. Aebi, A. Helenius, B. Schenk, R. Barone, A. Fiumara, E. G. Berger, T. Hennet, T. Imbach, A. Stutz, C. Bjursell, A. Uller, J. G. Wahlstrom, P. Briones, E. Cardo, P. Clayton, B. Winchester, V. Cormier-Dalre, P. De Lonlay, M. Cuer, T. Dupre & 30 others, N. Seta, T. De Koning, L. Dorland, F. De Loos, L. Kupers, L. Fabritz, M. Hasilik, T. Marquardt, R. Niehues, H. Freeze, S. Grunewald, L. Heykants, J. Jaeken, G. Matthijs, E. Schollen, G. Keir, S. Kjaergaard, M. Schwartz, F. Skovby, A. Klein, P. Roussel, C. Korner, T. Lubke, C. Thiel, K. Von Figura, J. Koscielak, D. Krasnewich, L. Lehle, V. Peters & M. Raab, 1999 Nov, In: Glycoconjugate Journal. 16, 11, p. 669-671

    Research output: Contribution to journalLetter

  24. 2000
  25. 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

  26. 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

  27. Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency

    Tom J. De Koning, Marinus Duran, Lambertus Dorland, Cornelis Jakobs, Ron A. Wevers, Ruud Berger & Bwee Tien Poll-The, 2000 Jan 1, In: European Journal of Pediatrics. 159, 12, p. 939-940 2 p.

    Research output: Contribution to journalLetter

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 2001
  34. 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

  35. 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

  36. 2002
  37. 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

  38. 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

  39. 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

  40. 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

  41. 2003
  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 2004
  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 2005
  54. 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

  55. 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

  56. Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency

    T. Takken, J. W.H. Custers, G. Visser, L. Dorland, P. J.M. Helders & T. J. De Koning, 2005 May 20, In: Nutrition and Metabolism. 2, 12.

    Research output: Contribution to journalArticle

  57. 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

  58. 2006
  59. 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

  60. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

    S. Wortmann, R. J.T. Rodenburg, M. Huizing, F. J. Loupatty, T. de Koning, L. A.J. Kluijtmans, U. Engelke, R. Wevers, J. A.M. Smeitink & E. Morava, 2006 May 1, In: Molecular Genetics and Metabolism. 88, 1, p. 47-52 6 p.

    Research output: Contribution to journalArticle

  61. Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

    H. Vlaardingerbroek, G. Hornstra, T. J. de Koning, J. A.M. Smeitink, H. D. Bakker, H. B.C. de Klerk & M. E. Rubio-Gozalbo, 2006 Jun 1, In: Molecular Genetics and Metabolism. 88, 2, p. 159-165 7 p.

    Research output: Contribution to journalArticle

  62. D-serine in the developing human central nervous system

    Sabine A. Fuchs, Lambertus Dorland, Monique G. De Sain-Van Der Velden, Margriet Hendriks, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2006 Oct 1, In: Annals of Neurology. 60, 4, p. 476-480 5 p.

    Research output: Contribution to journalArticle

  63. 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

  64. 2007
  65. 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

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. 2008
  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

  80. 2009
  81. 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

  82. 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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 2010
  89. 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

  90. 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

  91. 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

  92. 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

  93. 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

  94. 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

  95. 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

  96. 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

  97. 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

  98. 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

  99. 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

  100. 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

  101. 2011
  102. 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

  103. 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

  104. 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

  105. 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

  106. 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

  107. 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

  108. 2012
  109. 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

  110. 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

  111. 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

  112. 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

  113. 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

  114. 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

  115. 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

  116. 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

  117. 2013
  118. 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

  119. 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

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