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

por Lunsing, Roelineke J., Strating, Kim, de Koning, Tom J., Sijens, Paul E.
Publicado 2016

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

por Weijenberg, Amerins, van Rijn, Margreet, Callenbach, Petra M. C., de Koning, Tom J., Brouwer, Oebele F.
Publicado 2018

Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry

por Visser, Désirée Y., Jansen, Nicolaas J., Ijland, Marloes M., de Koning, Tom J., van Hasselt, Peter M.
Publicado 2011

Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

por Gannamani, Rahul, van der Veen, Sterre, van Egmond, Martje, de Koning, Tom J., Tijssen, Marina A.J.
Publicado 2021

Case Report: “Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy”

por van Verseveld, M., Koens, L. H., de Koning, Tom J., Derikx, R. L. E., van Waarde, J. A.
Publicado 2021

Progressive myoclonus ataxia: Time for a new definition?

por van der Veen, Sterre, Zutt, Rodi, Elting, Jan Willem J., Becker, Charlotte E., de Koning, Tom J., Tijssen, Marina A.J.
Publicado 2018

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

por Koens, Lisette H., Tijssen, Marina A.J., Lange, Fiete, Wolffenbuttel, Bruce H.R., Rufa, Alessandra, Zee, David S., de Koning, Tom J.
Publicado 2018

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

por Ulmanová, Olga, Koens, Lisette H., Jahnová, Helena, de Vries, Jeroen J., de Koning, Tom J., Růžička, Evžen, Tijssen, Marina A.J.
Publicado 2020

Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review

por van der Linden, Marleen H., Kruyt, Moyo C., Sakkers, Ralph J. B., de Koning, Tom J., Öner, F. Cumhur, Castelein, René M.
Publicado 2011

Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Pa...

por Castela Forte, José, Folkertsma, Pytrik, Gannamani, Rahul, Kumaraswamy, Sridhar, Mount, Sarah, de Koning, Tom J., van Dam, Sipko, Wolffenbuttel, Bruce H. R.
Publicado 2021

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

por van Egmond, Martje E., Eggink, Hendriekje, Kuiper, Anouk, Sival, Deborah A., Verschuuren-Bemelmans, Corien C., Tijssen, Marina A. J., de Koning, Tom J.
Publicado 2018

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

por Sival, Deborah A., Garofalo, Martinica, Brandsma, Rick, Bokkers, Tom A., van den Berg, Marloes, de Koning, Tom J., Tijssen, Marina A. J., Verbeek, Dineke S.
Publicado 2020

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

por Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria Fiorella, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina AJ, de Koning, Tom J
Publicado 2014

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

por Waalkens, Anne J.E., Vansenne, Fleur, van der Hout, Annemarie H., Zutt, Rodi, Mourmans, Jeroen, Tolosa, Eduardo, de Koning, Tom J., Tijssen, Marina A.J.
Publicado 2018

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy

por Hentrich, Lea, Parnes, Mered, Lotze, Timothy Edward, Coorg, Rohini, de Koning, Tom J., Nguyen, Kha M., Yip, Calvin K., Jungbluth, Heinz, Koy, Anne, Dafsari, Hormos Salimi
Publicado 2023

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

por van der Veen, Sterre, Zutt, Rodi, Klein, Christine, Marras, Connie, Berkovic, Samuel F., Caviness, John N., Shibasaki, Hiroshi, de Koning, Tom J., Tijssen, Marina A.J.
Publicado 2019

Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients

por Timmers, Elze R., Plösch, Torsten, Smit, Marenka, Hof, Ingrid H., Verkaik-Schakel, Rikst Nynke, Tijssen, Marina A. J., de Koning, Tom J., Niezen-Koning, Klary E.
Publicado 2022

Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia

por Fuchs, Sabine A., Peeters-Scholte, Cacha M. P. C. D., de Barse, Martina M. J., Roeleveld, Martin W., Klomp, Leo W. J., Berger, Ruud, de Koning, Tom J.
Publicado 2011

Fatal cerebral edema associated with serine deficiency in CSF

por Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.
Publicado 2010

Serotonergic system in vivo with [(11)C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients

por Timmers, Elze R., Peretti, Débora E., Smit, Marenka, de Jong, Bauke M., Dierckx, Rudi A. J. O., Kuiper, Anouk, de Koning, Tom J., Vállez García, David, Tijssen, Marina A. J.
Publicado 2022