Tom J de Koning

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  1. Article
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. Letter
  18. The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

    Tina Mainka, Athanasia Ziagaki, Tom J. de Koning, Andrea A. Kühn & Christos Ganos, 2020 Nov, In: Movement Disorders Clinical Practice. 7, 8, p. 1004-1006 3 p.

    Research output: Contribution to journalLetter

  19. Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

    Deborah A. Sival, Fleur Vansenne, Annemieke H. Van der Hout, Marina A.J. Tijssen & Tom J. de Koning, 2018 Apr 1, In: Pediatric Neurology. 81, p. 57-58 2 p.

    Research output: Contribution to journalLetter

  20. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Willemijn J. Van Rijt, Emmalie A. Jager, Francjan J. Van Spronsen, Tom De Koning, M. Rebecca Heiner-Fokkema & Terry G.J. Derks, 2016 Dec 1, In: Genetics in Medicine. 18, 12, p. 1322-1323 2 p.

    Research output: Contribution to journalLetter

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. Debate/Note/Editorial
  30. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

    Hendriekje Eggink, Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Marleen C. Schönherr, Tom J. de Koning, D. L.Marinus Oterdoom, J. Marc C. van Dijk & Marina A.J. Tijssen, 2017 Jan 1, In: Movement Disorders. 32, 1, p. 162-165 4 p.

    Research output: Contribution to journalDebate/Note/Editorial

  31. 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

  32. 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

  33. 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

  34. Book chapter
  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. Review article
  45. How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach

    Lisette H Koens, Jeroen J de Vries, Fleur Vansenne, Tom J de Koning & Marina A J Tijssen, 2021 Mar 2, In: Parkinsonism & Related Disorders.

    Research output: Contribution to journalReview article

  46. Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

    Rahul Gannamani, Sterre van der Veen, Martje van Egmond, Tom J de Koning & Marina A J Tijssen, 2021, In: Movement Disorders Clinical Practice. 8, 3, p. 311-321 11 p.

    Research output: Contribution to journalReview article

  47. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

    Sterre van der Veen, Rodi Zutt, Christine Klein, Connie Marras, Samuel F. Berkovic, John N. Caviness, Hiroshi Shibasaki, Tom J. de Koning & Marina A.J. Tijssen, 2019 Nov 1, In: Movement Disorders. 34, 11, p. 1602-1613 12 p.

    Research output: Contribution to journalReview article

  48. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    María Jesús Sobrido, Peter Bauer, Tom De Koning, Thomas Klopstock, Yann Nadjar, Marc C. Patterson, Matthis Synofzik & Chris J. Hendriksz, 2019 Jan 21, In: Orphanet Journal of Rare Diseases. 14, 1, 20.

    Research output: Contribution to journalReview article

  49. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

    Lisette H. Koens, Marina A.J. Tijssen, Fiete Lange, Bruce H.R. Wolffenbuttel, Alessandra Rufa, David S. Zee & Tom J. de Koning, 2018 Dec, In: Movement Disorders. 33, 12, p. 1844-1856

    Research output: Contribution to journalReview article

  50. Treatable inherited rare movement disorders

    H. A. Jinnah, Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J. de Koning, Alberto J. Espay, Victor Fung, Pedro J. Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M. Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C. Rodriguez Oroz, Mayela Rodríguez-Violante & 7 others, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M. Gatto & for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders, 2018 Jan 1, In: Movement Disorders. 33, 1, p. 21-35 15 p.

    Research output: Contribution to journalReview article

  51. Amino acid synthesis deficiencies

    T. J. de Koning, 2017 Jul, In: Journal of Inherited Metabolic Disease. 40, 4, p. 609-620

    Research output: Contribution to journalReview article

  52. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Esther A.R. Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen & Dineke S. Verbeek, 2017 Apr 1, In: Neuroscience and Biobehavioral Reviews. 75, p. 22-39

    Research output: Contribution to journalReview article

  53. Serotonergic perturbations in dystonia disorders-a systematic review

    M. Smit, A. L. Bartels, M. van Faassen, A. Kuiper, K. E. Niezen-Koning, I. P. Kema, R. A. Dierckx, T. J. de Koning & M. A. Tijssen, 2016 Jun 1, In: Neuroscience and Biobehavioral Reviews. 65, p. 264-275

    Research output: Contribution to journalReview article

  54. Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

    Willemijn J. Van Rijt, Geneviève D. Koolhaas, Jolita Bekhof, M. Rebecca Heiner Fokkema, Tom J. De Koning, Gepke Visser, Peter C.J.I. Schielen, Francjan J. Van Spronsen & Terry G.J. Derks, 2016 Jun 1, In: Neonatology. 109, 4, p. 297-302

    Research output: Contribution to journalReview article

  55. 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