Tom J de Koning

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  1. Article
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

    Roald A. Lambrechts, Sjoukje S. Polet, Alejandra Hernandez-Pichardo, Lisa van Ninhuys, Jenke A. Gorter, Nicola A. Grzeschik, Marina A.J. de Koning-Tijssen, Tom J. de Koning & Ody C.M. Sibon, 2019 Dec 15, In: Neuroscience. 423, p. 1-11 11 p.

    Research output: Contribution to journalArticle

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. Non-motor symptoms and quality of life in dopa-responsive dystonia patients

    E. R. Timmers, A. Kuiper, M. Smit, A. L. Bartels, D. J. Kamphuis, N. I. Wolf, B. T. Poll-The, T. Wassenberg, E. A.J. Peeters, T. J. de Koning & M. A.J. Tijssen, 2017 Dec 1, In: Parkinsonism and Related Disorders. 45, p. 57-62 6 p.

    Research output: Contribution to journalArticle

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. Neurometabolic disorders are treatable causes of dystonia

    A. Kuiper, H. Eggink, M. A.J. Tijssen & T. J. de Koning, 2016 Aug 1, In: Revue Neurologique. 172, 8-9, p. 455-464 10 p.

    Research output: Contribution to journalArticle

  29. Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

    Hendriekje Eggink, Anouk Kuiper, Cathérine C.S. Delnooz, Deborah A. Sival, Tom J. De Koning & Marina A.J. Tijssen, 2016 Jul 1, In: European Journal of Paediatric Neurology. 20, 4, p. 671-673 3 p.

    Research output: Contribution to journalArticle

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

    Martje E. Van Egmond, Jan Willem J. Elting, Anouk Kuiper, Rodi Zutt, Kirsten R. Heineman, Oebele F. Brouwer, Deborah A. Sival, Michel A. Willemsen, Marina A.J. Tijssen & Tom J. De Koning, 2015 Jan 1, In: European Journal of Paediatric Neurology. 19, 6, p. 726-729 4 p.

    Research output: Contribution to journalArticle

  37. 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

  38. 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

  39. 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

  40. 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

  41. Periodic fever in MVK deficiency: A patient initially diagnosed with incomplete Kawasaki disease

    Valtyr S. Thors, Sebastiaan J. Vastert, Nico Wulffraat, Annet Van Royen, Joost Frenkel, Monique De Sain-Van Der Velden & Tom J. De Koning, 2014 Jan 1, In: Pediatrics. 133, 2

    Research output: Contribution to journalArticle

  42. 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

  43. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Maria Veiga-Da-Cunha, Nanda M. Verhoeven-Duif, Tom J. De Koning, Marinus Duran, Bert Dorland & Emile Van Schaftingen, 2013 Nov 1, In: Journal of Inherited Metabolic Disease. 36, 6, p. 961-966 6 p.

    Research output: Contribution to journalArticle

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

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