Tom J de Koning

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2010
Mark Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid
van der Ham, Maria ; de Koning, Tom J. ^LU ; Lefeber, Dirk ; Fleer, André ; Prinsen, Berthil H.C.M.T. and de Sain-van der Velden, Monique G.M. (2010) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 878(15-16). p.1098-1102
- Contribution to journal › Article
Mark Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
van Maldegem, Bianca T. ; Duran, Marinus ; Wanders, Ronald J.A. ; Waterham, Hans R. ; de Koning, Tom J. ^LU ; Rubio, Estela and Wijburg, Frits A. (2010) In Journal of Pediatrics 156(1). p.121-127
- Contribution to journal › Article
Mark Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Steenweg, Marjan E. ; Vanderver, Adeline ; Blaser, Susan ; Bizzi, Alberto ; De Koning, Tom J. ^LU ; Mancini, Grazia M.S. ; Van Wieringen, Wessel N. ; Barkhof, Frederik ; Wolf, Nicole I. and Van Der Knaap, Marjo S. (2010) In Brain 133(10). p.2971-2982
- Contribution to journal › Article
Mark l-Serine synthesis in the central nervous system : A review on serine deficiency disorders
Tabatabaie, L. ; Klomp, L. W. ; Berger, R. and de Koning, T. J. ^LU (2010) In Molecular Genetics and Metabolism 99(3). p.256-262
- Contribution to journal › Scientific review
2009
Mark 3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures
Coşkun, Turgay ; Aydin, Halil Ibrahim ; Kiliç, Mustafa ; Dursun, Ali ; Haliloǧlu, Göknur ; Topaloǧlu, Haluk ; Karli-Oǧuz, Kader and De Koning, Tom J. ^LU (2009) In Turkish Journal of Pediatrics 51(6). p.587-592
- Contribution to journal › Article
Mark Musculoskeletal manifestations of lysosomal storage disorders
Aldenhoven, M. ; Sakkers, R. J.B. ; Boelens, J. ; De Koning, T. J. ^LU and Wulffraat, N. M. (2009) In Annals of the Rheumatic Diseases 68(11). p.1659-1665
- Contribution to journal › Scientific review
Mark Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency
Van Hasselt, P. M. ; Kok, K. ; Vorselaars, A. D.M. ; Van Vlerken, L. ; Nieuwenhuys, E. ; De Koning, T. J. ^LU ; De Vries, R. A. and Houwen, R. H.J. (2009) In Archives of Disease in Childhood: Fetal and Neonatal Edition 94(6).
- Contribution to journal › Article
Mark In response to van Spronsen et al
van Spronsen, F. J. ; van Rijn, M. ; Dorgelo, B. ; Hoeksma, M. ; Bosch, A. M. ; Mulder, M. F. ; de Klerk, J. B.C. ; de Koning, T. ^LU ; Rubio-Gozalbo, M. E. and de Vries, M. , et al. (2009) In Journal of Inherited Metabolic Disease 32(4). p.585-586
- Contribution to journal › Letter
Mark Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
Tabatabaie, L. ; De Koning, T. J. ^LU ; Geboers, A. J.J.M. ; Van Den Berg, I. E.T. ; Berger, R. and Klomp, L. W.J. (2009) In Human Mutation 30(5). p.749-756
- Contribution to journal › Article
Mark Reply
Engbers, Hannelie M. ; Berger, Ruud ; Ven Hasselt, Peter ; De Koning, Tom ^LU ; Monique, G. M.de Sain van der Velden ; Kroes, Hester and Visser, Gepke (2009) In Annals of Neurology 65(4). p.484-484
- Contribution to journal › Letter

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