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The Correlation of In Vivo MR Spectroscopy and Ex Vivo 2-Hydroxyglutarate Concentration for the Prediction of Isocitrate Dehydrogenase Mutation Status in Diffuse Glioma.
van Dijken BRJ, Jeltema HR, Kłos J, van Laar PJ, Enting RH, Maatman RGHJ, Bijsterveld K, Den Dunnen WFA, Dierckx RA, Sijens PE, van der Hoorn A. van Dijken BRJ, et al. Among authors: bijsterveld k. Diagnostics (Basel). 2023 Aug 29;13(17):2791. doi: 10.3390/diagnostics13172791. Diagnostics (Basel). 2023. PMID: 37685329 Free PMC article.
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D; Québec NTBC Study Group; Boelen A, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: bijsterveld k. J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. doi: 10.1002/jimd.12669. Epub 2023 Aug 10. J Inherit Metab Dis. 2023. PMID: 37545091
Mevalonic aciduria: an inborn error of cholesterol biosynthesis?
Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R. Berger R, et al. Among authors: bijsterveld k. Clin Chim Acta. 1985 Oct 31;152(1-2):219-22. doi: 10.1016/0009-8981(85)90195-0. Clin Chim Acta. 1985. PMID: 4053401 No abstract available.