Identification of a Human trans-3-Hydroxy-l-proline Dehydratase, the First Characterized Member of a Novel Family of Proline Racemase-like Enzymes

od Visser, Wouter F., Verhoeven-Duif, Nanda M., de Koning, Tom J.
Wydane 2012

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

od Lunsing, Roelineke J., Strating, Kim, de Koning, Tom J., Sijens, Paul E.
Wydane w Eur Radiol (2016)

The Wide Phenotypic Spectrum of L‐2 Hydroxyglutaric Aciduria in Adults

od Mainka, Tina, Ziagaki, Athanasia, de Koning, Tom J., Kühn, Andrea A., Ganos, Christos
Wydane w Mov Disord Clin Pract (2020)

L-serine in disease and development.

od de Koning, Tom J, Snell, Keith, Duran, Marinus, Berger, Ruud, Poll-The, Bwee-Tien, Surtees, Robert
Wydane 2003

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

od Zoons, Evelien, de Koning, Tom J., Abeling, Nico G. G. M., Tijssen, Marina A. J.
Wydane 2011

D-Serine Influences Synaptogenesis in a P19 Cell Model

od Fuchs, Sabine A., Roeleveld, Martin W., Klomp, Leo W. J., Berger, Ruud, de Koning, Tom J.
Wydane 2012

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

od Weijenberg, Amerins, van Rijn, Margreet, Callenbach, Petra M. C., de Koning, Tom J., Brouwer, Oebele F.
Wydane w Child Neurol Open (2018)

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

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

Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

od Gannamani, Rahul, van der Veen, Sterre, van Egmond, Martje, de Koning, Tom J., Tijssen, Marina A.J.
Wydane w Mov Disord Clin Pract (2021)

High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

od Heitink-Pollé, Katja M J, Prinsen, Berthil H. C. M. T., de Koning, Tom J, van Hasselt, Peter M, Bierings, Marc B
Wydane 2012

Progressive myoclonus ataxia: Time for a new definition?

od van der Veen, Sterre, Zutt, Rodi, Elting, Jan Willem J., Becker, Charlotte E., de Koning, Tom J., Tijssen, Marina A.J.
Wydane w Mov Disord (2018)

Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea

od van Egmond, Martje E., Kuiper, Anouk, Elting, Jan Willem J., Brouwer, Oebele F., de Koning, Tom J., Tijssen, Marina A.J.
Wydane w Mov Disord Clin Pract (2015)

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

od Koens, Lisette H., Tijssen, Marina A.J., Lange, Fiete, Wolffenbuttel, Bruce H.R., Rufa, Alessandra, Zee, David S., de Koning, Tom J.
Wydane w Mov Disord (2018)

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

od Ulmanová, Olga, Koens, Lisette H., Jahnová, Helena, de Vries, Jeroen J., de Koning, Tom J., Růžička, Evžen, Tijssen, Marina A.J.
Wydane w Mov Disord Clin Pract (2020)

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

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

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

od van Egmond, Martje E., Eggink, Hendriekje, Kuiper, Anouk, Sival, Deborah A., Verschuuren-Bemelmans, Corien C., Tijssen, Marina A. J., de Koning, Tom J.
Wydane w J Clin Mov Disord (2018)

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

od Nibbeling, Esther A.R., Delnooz, Cathérine C.S., de Koning, Tom J., Sinke, Richard J., Jinnah, Hyder A., Tijssen, Marina A.J., Verbeek, Dineke S.
Wydane w Neurosci Biobehav Rev (2017)

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

od 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.
Wydane w Diagnostics (Basel) (2020)

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

od 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
Wydane w Orphanet J Rare Dis (2014)

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

od 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.
Wydane w Neurol Genet (2018)