Tom J de Koning

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  1. Review article
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

    K. J. Peall, A. Kuiper, T. J. de Koning & M. A.J. Tijssen, 2015 Sep, In: Parkinsonism and Related Disorders. 21, 9, p. 1031-1040

    Research output: Contribution to journalReview article

  14. Dystonia in children and adolescents: A systematic review and a new diagnostic algorithm

    Martje E. Van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J. Sinke, Oebele F. Brouwer, Corien C. Verschuuren-Bemelmans, Deborah A. Sival, Marina A.J. Tijssen & Tom J. De Koning, 2015 Jul 1, In: Journal of Neurology, Neurosurgery and Psychiatry. 86, 7, p. 774-781 8 p.

    Research output: Contribution to journalReview article

  15. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Gastroenterology and Hepatology. 11, p. 78-79

    Research output: Contribution to journalReview article

  16. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Neurology. 11, p. 78-79

    Research output: Contribution to journalReview article

  17. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: The opportunities and challenges

    Tom J. De Koning, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz & Richard J. Sinke, 2015, In: Expert Review of Molecular Diagnostics. 15, 1, p. 61-70

    Research output: Contribution to journalReview article

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. Book chapter
  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. Debate/Note/Editorial
  43. 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

  44. 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

  45. 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

  46. 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

  47. Letter
  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

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