Tom J de Koning

Professor
Fler filtreringsmöjligheter
  1. Artikel i vetenskaplig tidskrift
  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 andra, 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, I: Brain : a journal of neurology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I: Developmental Medicine and Child Neurology. 63, 3, s. 252-258 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

    Miaozhen Huang, Tom J. de Koning, Marina A.J. Tijssen & Dineke S. Verbeek, 2021 jan 1, I: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1867, 1, 165976.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. 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, I: Diagnostics. 10, 12

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 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, I: Movement Disorders Clinical Practice. 7, S3, s. S85-S88

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. 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, I: European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. 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, I: Parkinsonism and Related Disorders. 72, s. 44-48 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 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, I: Neuroscience. 423, s. 1-11 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 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 andra, 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, I: Nature Communications. 10, 1, 1477.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. 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 andra, 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, I: European Journal of Paediatric Neurology. 23, 5, s. 692-706 15 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. 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 maj 1, I: Journal of Inherited Metabolic Disease. 42, 3, s. 451-458 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. 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, I: Movement Disorders. 34, 3, s. 317-320

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 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, I: Journal of Inherited Metabolic Disease. 41, 6, s. 929-936

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. 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, I: Movement Disorders. 33, 8, s. 1281-1286

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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, I: Journal of clinical movement disorders. 5, 3.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 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, I: Neurology: Genetics. 4, 1, e214.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. 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, I: Child neurology open. 5

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 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, I: Tremor and Other Hyperkinetic Movements. 8, s. 1-4 4 s., 530.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. 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, I: Parkinsonism and Related Disorders. 45, s. 57-62 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 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, I: Blood Advances. 1, 24, s. 2236-2242 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. 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 okt 1, I: Pediatrics. 140, 4, e20172854.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 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 andra, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 maj 4, I: Current Medical Research and Opinion. 33, 5, s. 877-890 14 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 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, I: Movement Disorders. 32, 4, s. 569-575 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. 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, I: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 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, I: European Radiology. 27, 3, s. 976-984 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 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, I: Genome Biology. 18, 1, 6.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. 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, I: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. Neurometabolic disorders are treatable causes of dystonia

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 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, I: European Journal of Paediatric Neurology. 20, 4, s. 671-673 3 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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 andra, 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 maj 12, I: New England Journal of Medicine. 374, 19, s. 1853-1863 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I: Developmental Medicine and Child Neurology. 58, 1, s. 70-76 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 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, I: Analytical Chemistry. 87, 24, s. 12238-12244 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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 andra, R. S. Kahn & R. A. Ophoff, 2015 dec 1, I: Molecular Psychiatry. 20, 12, s. 1557-1564 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 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 andra, Jaap Jan Boelens, 2015 mar 26, I: Blood. 125, 13, s. 2164-2172 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. 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, I: Movement Disorders Clinical Practice. 2, 1, s. 61-63 3 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, I: European Journal of Paediatric Neurology. 19, 6, s. 726-729 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. 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, I: Developmental Medicine and Child Neurology. 56, 12, s. 1202-1206 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 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, I: Journal of Pediatrics. 164, 2, s. 398-401 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. 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, I: Orphanet Journal of Rare Diseases. 9, 177.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. 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, I: JAMA Neurology. 71, 2, s. 188-194 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. 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, I: Pediatrics. 133, 2

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. 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, I: Movement Disorders. 29, 1, s. 139-143 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  44. 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, I: Journal of Inherited Metabolic Disease. 36, 6, s. 961-966 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  45. 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, I: Neuropsychopharmacology. 38, 10, s. 2019-2026 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. 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, I: Journal of Inherited Metabolic Disease. 36, 4, s. 613-619 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  47. 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, I: PLoS ONE. 8, 1, e54113.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  48. 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, I: Neuropsychopharmacology. 37, 9, s. 2088-2092 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  49. Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants

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