Tom J de Koning

Professor
More filtering options
  1. 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

  2. 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

  3. 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

  4. 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

  5. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

    Martje E. van Egmond, Maria Fiorella Contarino, Coen H.A. Lugtenberg, Kathryn J. Peall, Oebele F. Brouwer, Victor S.C. Fung, Emmanuel Roze, Roy E. Stewart, Michel A. Willemsen, Nicole I. Wolf, Tom J. de Koning & Marina A. Tijssen, 2019 Mar, In: Movement Disorders. 34, 3, p. 317-320

    Research output: Contribution to journalArticle

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

    Monique Albersen, Marjolein Bosma, Nine V.V.A.M. Knoers, Berna H.B. de Ruiter, Eugène F. Diekman, Jessica de Ruijter, Wouter F. Visser, Tom J. de Koning & Nanda M. Verhoeven-Duif, 2013 Jan 14, In: PLoS ONE. 8, 1, e54113.

    Research output: Contribution to journalArticle

  15. 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

  16. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

    Christian J. Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean Christophe Corvol, Tom J. de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik & 7 others, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 May 4, In: Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

    Research output: Contribution to journalArticle

  17. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 Mar 7, In: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Research output: Contribution to journalArticle

  18. 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

  19. 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

  20. 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

  21. 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

  22. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

    Eugene F. Diekman, Tom J. De Koning, Nanda M. Verhoeven-Duif, Maroeska M. Rovers & Peter M. Van Hasselt, 2014 Jan 1, In: JAMA Neurology. 71, 2, p. 188-194 7 p.

    Research output: Contribution to journalArticle

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia

    D. L.Marinus Oterdoom, Martje E. Van Egmond, Luisa Cassini Ascencao, J. Marc C. Van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J. de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A.J. Tijssen & Joachim K. Krauss, 2018, In: Tremor and Other Hyperkinetic Movements. 8, p. 1-4 4 p., 530.

    Research output: Contribution to journalArticle

  30. 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

  31. 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

  32. Reliability of phenotypic early-onset ataxia assessment: A pilot study

    Tjitske F. Lawerman, Rick Brandsma, Joke T. van Geffen, Roelineke J. Lunsing, Huibert Burger, Marina A.J. Tijssen, Jeroen J. de Vries, Tom J. de Koning & Deborah A. Sival, 2016 Jan 1, In: Developmental Medicine and Child Neurology. 58, 1, p. 70-76 7 p.

    Research output: Contribution to journalArticle

  33. 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

  34. 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

  35. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

    Hendriekje Eggink, Anouk Kuiper, Kathryn J. Peall, Maria Fiorella Contarino, Annet M. Bosch, Bart Post, Deborah A. Sival, Marina A.J. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Orphanet Journal of Rare Diseases. 9, 177.

    Research output: Contribution to journalArticle

  36. Rapid targeted genomics in critically ill newborns

    Cleo C. Van Diemen, Wilhelmina S. Kerstjens-Frederikse, Klasien A. Bergman, Tom J. De Koning, Birgit Sikkema-Raddatz, Joeri K. Van Der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Lohner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B.T. Neerincx, Jan D.H. Jongbloed, Conny M. Van Ravenswaaij-Arts, Morris A. Swertz, Richard J. Sinke, Irene M. Van Langen & Cisca Wijmenga, 2017 Oct 1, In: Pediatrics. 140, 4, e20172854.

    Research output: Contribution to journalArticle

  37. Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

    Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Esther A. Nibbeling, Jan Willem J. Elting, Deborah A. Sival, Oebele F. Brouwer, Jeroen J. de Vries, Hubertus P. Kremer, Richard J. Sinke, Marina A. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Movement Disorders. 29, 1, p. 139-143 5 p.

    Research output: Contribution to journalArticle

  38. 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

  39. 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

  40. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

    Mieke Aldenhoven, Brigitte T.A. Van Den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. Van Hasselt, Marleen Renard, Victoria Bordon, Tom J. De Koning & Jaap Jan Boelens, 2017 Nov 14, In: Blood Advances. 1, 24, p. 2236-2242 7 p.

    Research output: Contribution to journalArticle

  41. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

    Wendy E. Heywood, Stephane Camuzeaux, Ivan Doykov, Nina Patel, Rhian Lauren Preece, Emma Footitt, Maureen Cleary, Peter Clayton, Stephanie Grunewald, Lara Abulhoul, Anupam Chakrapani, Neil J. Sebire, Peter Hindmarsh, Tom J. De Koning, Simon Heales, Derek Burke, Paul Gissen & Kevin Mills, 2015 Dec 15, In: Analytical Chemistry. 87, 24, p. 12238-12244 7 p.

    Research output: Contribution to journalArticle

  42. 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

  43. Progressive myoclonus ataxia: Time for a new definition?

    Sterre van der Veen, Rodi Zutt, Jan Willem J. Elting, Charlotte E. Becker, Tom J. de Koning & Marina A.J. Tijssen, 2018 Aug, In: Movement Disorders. 33, 8, p. 1281-1286

    Research output: Contribution to journalArticle

  44. 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

  45. 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

  46. 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

  47. Polyhydramnios, transient antenatal bartter's syndrome, and MAGED2 mutations

    Kamel Laghmani, Bodo B. Beck, Sung Sen Yang, Elie Seaayfan, Andrea Wenzel, Bjorn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, Klasien Bergmann, Leonie K. Duin, Heike Gobel, Christoph Mache, Holger Thiele, Malte P. Bartram, Carlos Dombret, Janine Altmuller, Peter Nurnberg, Thomas Benzing, Elena Levtchenko & 13 others, Hannsjorg W. Seyberth, Gunter Klaus, Gokhan Yigit, Shih Hua Lin, Albert Timmer, Tom J. De Koning, Sicco A. Scherjon, Karl P. Schlingmann, Mathieu J.M. Bertrand, Markus M. Rinschen, Olivier De Backer, Martin Konrad & Martin Komhoff, 2016 May 12, In: New England Journal of Medicine. 374, 19, p. 1853-1863 11 p.

    Research output: Contribution to journalArticle

  48. 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

  49. 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

  50. 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

Previous 1 2 3 4 Next