Tom J de Koning

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  1. 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

  2. 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

  3. A clinical diagnostic algorithm for early onset cerebellar ataxia

    R. Brandsma, C. C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O. F. Brouwer, K. Bürk, C. E. Catsman-Berrevoets, D. Craiu, I. F.M. de Coo, J. Gburek, C. Kennedy, T. J. de Koning, H. P.H. Kremer, R. Kumar, A. Macaya, A. Micalizzi & 14 others, M. Mirabelli-Badenier, A. Nemeth, S. Nuovo, B. Poll-The, T. Lerman-Sagie, M. Steinlin, M. Synofzik, M. A.J. Tijssen, G. Vasco, M. A.A.P. Willemsen, G. Zanni, E. M. Valente, E. Boltshauser & D. A. Sival, 2019 Sep 1, In: European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

    Research output: Contribution to journalArticle

  4. 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

  5. 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

  6. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

    Sjoukje S. Polet, David G. Anderson, Lisette H. Koens, Martje E. van Egmond, Gea Drost, Esther Brusse, Michèl AAP Willemsen, Deborah A. Sival, Oebele F. Brouwer, Hubertus PH Kremer, Jeroen J. de Vries, Marina AJ Tijssen & Tom J. de Koning, 2020, In: Parkinsonism and Related Disorders. 72, p. 44-48 5 p.

    Research output: Contribution to journalArticle

  7. 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

  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. 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

  10. 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

  11. 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

  12. 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

  13. An update on serine deficiency disorders

    S. N. Van Der Crabben, N. M. Verhoeven-Duif, E. H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger & T. J. De Koning, 2013 Jul 1, In: Journal of Inherited Metabolic Disease. 36, 4, p. 613-619 7 p.

    Research output: Contribution to journalArticle

  14. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen & Tom J. de Koning, 2017 Apr 1, In: Movement Disorders. 32, 4, p. 569-575 7 p.

    Research output: Contribution to journalArticle

  15. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

    Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M.A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen & Terry G.J. Derks, 2018 Dec, In: Journal of Inherited Metabolic Disease. 41, 6, p. 929-936

    Research output: Contribution to journalArticle

  16. 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

  17. 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

  18. Assessment of speech in early-onset ataxia: A pilot study

    Marieke J. Kuiper, Rick Brandsma, Tjitske F. Lawerman, Roelineke J. Lunsing, Anne L. Keegstra, Huibert Burger, Tom J. De Koning, Marina A.J. Tijssen & Deborah A. Sival, 2014 Dec 1, In: Developmental Medicine and Child Neurology. 56, 12, p. 1202-1206 5 p.

    Research output: Contribution to journalArticle

  19. 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

  20. 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

  21. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    L. H. Koens, A. Kuiper, M. A. Coenen, J. W.J. Elting, J. J. De Vries, M. Engelen, J. H.T.M. Koelman, F. J. Van Spronsen, J. M. Spikman, T. J. De Koning & M. A.J. Tijssen, 2016 Sep 1, In: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Research output: Contribution to journalArticle

  22. 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

  23. 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

  24. 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

  25. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

    Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera & 47 others, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu-Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda & Roberto De Giorgio, 2021 Apr 15, In: Brain : a journal of neurology.

    Research output: Contribution to journalArticle

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea

    Martje E. van Egmond, Anouk Kuiper, Jan Willem J. Elting, Oebele F. Brouwer, Tom J. de Koning & Marina A.J. Tijssen, 2015 Mar 1, In: Movement Disorders Clinical Practice. 2, 1, p. 61-63 3 p.

    Research output: Contribution to journalArticle

  35. 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

  36. Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

    Martje E van Egmond, Hendriekje Eggink, Anouk Kuiper, Deborah A Sival, Corien C Verschuuren-Bemelmans, Marina A J Tijssen & Tom J de Koning, 2018 Apr 6, In: Journal of clinical movement disorders. 5, 3.

    Research output: Contribution to journalArticle

  37. D-amino acid aberrations in cerebrospinal fluid and plasma of smokers

    Jurjen J. Luykx, Steven C. Bakker, Loes Van Boxmeer, Christiaan H. Vinkers, Hanne E. Smeenk, Wouter F. Visser, Nanda M. Verhoeven-Duif, Eric Strengman, Jacobine E. Buizer-Voskamp, Lizzy De Groene, Eric Pa Van Dongen, Paul Borgdorff, Peter Bruins, Tom J. De Koning, René S. Kahn & Roel A. Ophoff, 2013 Sep 1, In: Neuropsychopharmacology. 38, 10, p. 2019-2026 8 p.

    Research output: Contribution to journalArticle

  38. 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

  39. 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

  40. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Iris G.M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg & Erik Jan Kamsteeg, 2020 Mar 10, In: European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  41. 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

  42. 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

  43. Diagnostic approach to paediatric movement disorders: a clinical practice guide

    Rick Brandsma, Martje E. van Egmond, Marina A.J. Tijssen, T. J. de Koning & the Groningen Movement Disorder Expertise Centre the Groningen Movement Disorder Expertise Centre, 2021 Mar, In: Developmental Medicine and Child Neurology. 63, 3, p. 252-258 7 p.

    Research output: Contribution to journalArticle

  44. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

    Roelineke J. Lunsing, Kim Strating, Tom J. de Koning & Paul E. Sijens, 2017 Mar 1, In: European Radiology. 27, 3, p. 976-984 9 p.

    Research output: Contribution to journalArticle

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

    Deborah A Sival, Martinica Garofalo, Rick Brandsma, Tom A Bokkers, Marloes van den Berg, Tom J de Koning, Marina A J Tijssen & Dineke S Verbeek, 2020 Nov 24, In: Diagnostics. 10, 12

    Research output: Contribution to journalArticle

  53. 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

  54. 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

  55. Expanding the ADCY5 phenotype toward spastic paraparesis: Amutation in the M2 domain

    Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. Van Der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. De Koning & Marina A.J. Tijssen, 2018 Feb, In: Neurology: Genetics. 4, 1, e214.

    Research output: Contribution to journalArticle

  56. 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

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. 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

  63. 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

  64. GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke & Morris A. Swertz, 2017 Jan 16, In: Genome Biology. 18, 1, 6.

    Research output: Contribution to journalArticle

  65. Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma

    J. J. Luykx, S. C. Bakker, W. F. Visser, N. Verhoeven-Duif, J. E. Buizer-Voskamp, J. M. Den Heijer, M. P.M. Boks, J. H. Sul, E. Eskin, A. P. Ori, R. M. Cantor, J. Vorstman, E. Strengman, J. Deyoung, T. H. Kappen, E. Pariama, E. P.A. Van Dongen, P. Borgdorff, P. Bruins, T. J. De Koning & 2 others, R. S. Kahn & R. A. Ophoff, 2015 Dec 1, In: Molecular Psychiatry. 20, 12, p. 1557-1564 8 p.

    Research output: Contribution to journalArticle

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. 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

  72. 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

  73. 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

  74. 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

  75. Identification of human D lactate dehydrogenase deficiency

    Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M.C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì & 8 others, Paolo Bosco, Karin Geleijns, Monique G.M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften & Judith J. Jans, 2019 Dec 1, In: Nature Communications. 10, 1, 1477.

    Research output: Contribution to journalArticle

  76. Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone

    Fatiha Bendadi, Tom J. De Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. De Sain, Nanda Verhoeven-Duif, Gerben Sinnema, Francjan J. Van Spronsen & Peter M. Van Hasselt, 2014 Feb 1, In: Journal of Pediatrics. 164, 2, p. 398-401 4 p.

    Research output: Contribution to journalArticle

  77. Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

    Olga Ulmanová, Lisette H. Koens, Helena Jahnová, Jeroen J. de Vries, Tom J. de Koning, Evžen Růžička & Marina A.J. Tijssen, 2020 Sep 1, In: Movement Disorders Clinical Practice. 7, S3, p. S85-S88

    Research output: Contribution to journalArticle

  78. 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

  79. 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

  80. 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

  81. 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

  82. 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

  83. Ketogenic Diet in Refractory Childhood Epilepsy: Starting With a Liquid Formulation in an Outpatient Setting

    Amerins Weijenberg, Margreet van Rijn, Petra M C Callenbach, Tom J de Koning & Oebele F Brouwer, 2018 Jan, In: Child neurology open. 5

    Research output: Contribution to journalArticle

  84. 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

  85. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

    Mieke Aldenhoven, Robert F. Wynn, Paul J. Orchard, Anne O'Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Benedicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon A. Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico M. Wulffraat, Tom J. De Koning, Elsa G. Shapiro, Joanne Kurtzberg & 1 others, Jaap Jan Boelens, 2015 Mar 26, In: Blood. 125, 13, p. 2164-2172 9 p.

    Research output: Contribution to journalArticle

  86. 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

  87. 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

  88. 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

  89. 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

  90. 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

  91. 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

  92. 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

  93. 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

  94. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, Maraike A. Coenen, Hendriekje Eggink, Rodi Zutt, Maria E. Rubio-Gozalbo, Annet M. Bosch, Monique Williams, Terry G.J. Derks, Robin H.L. Lachmann, Martijn C.G.J. Brouwers, Mirian C.H. Janssen, Marina A. Tijssen & Tom J. de Koning, 2019 May 1, In: Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

    Research output: Contribution to journalArticle

  95. 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

  96. 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

  97. 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

  98. 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

  99. 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

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