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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. 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
Comparison of contrast-enhanced MRI features of the (teno)synovium in the wrist of patients with juvenile idiopathic arthritis and pediatric controls.
van der Krogt JMA, Verkuil F, van Gulik EC, Hemke R, van den Berg JM, Schonenberg-Meinema D, Kindermann A, Dolman KM, Benninga MA, Kuijpers TW, Maas M, Nusman CM. van der Krogt JMA, et al. Rheumatol Int. 2022 Jul;42(7):1257-1264. doi: 10.1007/s00296-021-05041-9. Epub 2021 Nov 22. Rheumatol Int. 2022. PMID: 34811568 Free PMC article.