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2018
Mark Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
Waalkens, Anne J.E. ; Vansenne, Fleur ; Van Der Hout, Annemarie H. ; Zutt, Rodi ; Mourmans, Jeroen ; Tolosa, Eduardo ; De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2018) In Neurology: Genetics 4(1).
- Contribution to journal › Article
Mark A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring
Hoogeveen, Irene J. ; Peeks, Fabian ; de Boer, Foekje ; Lubout, Charlotte M.A. ; de Koning, Tom J. ^LU ; te Boekhorst, Sebastiaan ; Zandvoort, Robert Jan ; Burghard, Rob ; van Spronsen, Francjan J. and Derks, Terry G.J. (2018) In Journal of Inherited Metabolic Disease 41(6). p.929-936
- Contribution to journal › Article
Mark Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
Sival, Deborah A. ; Vansenne, Fleur ; Van der Hout, Annemieke H. ; Tijssen, Marina A.J. and de Koning, Tom J. ^LU (2018) In Pediatric Neurology 81. p.57-58
- Contribution to journal › Letter
Mark Treatable inherited rare movement disorders
Jinnah, H. A. ; Albanese, Alberto ; Bhatia, Kailash P. ; Cardoso, Francisco ; Da Prat, Gustavo ; de Koning, Tom J. ^LU ; Espay, Alberto J. ; Fung, Victor ; Garcia-Ruiz, Pedro J. and Gershanik, Oscar , et al. (2018) In Movement Disorders 33(1). p.21-35
- Contribution to journal › Scientific review
Mark Ketogenic Diet in Refractory Childhood Epilepsy : Starting With a Liquid Formulation in an Outpatient Setting
Weijenberg, Amerins ; van Rijn, Margreet ; Callenbach, Petra M C ; de Koning, Tom J ^LU and Brouwer, Oebele F (2018) In Child Neurology Open 5.
- Contribution to journal › Article
Mark Crossing barriers : a multidisciplinary approach to children and adults with young-onset movement disorders
van Egmond, Martje E ; Eggink, Hendriekje ; Kuiper, Anouk ; Sival, Deborah A ; Verschuuren-Bemelmans, Corien C ; Tijssen, Marina A J and de Koning, Tom J ^LU (2018) In Journal of clinical movement disorders 5.
- Contribution to journal › Article
2017
Mark Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Aldenhoven, Mieke ; Van Den Broek, Brigitte T.A. ; Wynn, Robert F. ; O'Meara, Anne ; Veys, Paul ; Rovelli, Attilio ; Jones, Simon A. ; Parini, Rossella ; Van Hasselt, Peter M. and Renard, Marleen , et al. (2017) In Blood Advances 1(24). p.2236-2242
- Contribution to journal › Article
Mark Non-motor symptoms and quality of life in dopa-responsive dystonia patients
Timmers, E. R. ; Kuiper, A. ; Smit, M. ; Bartels, A. L. ; Kamphuis, D. J. ; Wolf, N. I. ; Poll-The, B. T. ; Wassenberg, T. ; Peeters, E. A.J. and de Koning, T. J. ^LU , et al. (2017) In Parkinsonism and Related Disorders 45. p.57-62
- Contribution to journal › Article
Mark Rapid targeted genomics in critically ill newborns
Van Diemen, Cleo C. ; Kerstjens-Frederikse, Wilhelmina S. ; Bergman, Klasien A. ; De Koning, Tom J. ^LU ; Sikkema-Raddatz, Birgit ; Van Der Velde, Joeri K. ; Abbott, Kristin M. ; Herkert, Johanna C. ; Lohner, Katharina and Rump, Patrick , et al. (2017) In Pediatrics 140(4).
- Contribution to journal › Article
Mark Amino acid synthesis deficiencies
de Koning, T. J. ^LU (2017) In Journal of Inherited Metabolic Disease 40(4). p.609-620
- Contribution to journal › Scientific review

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