Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1

K. van Vliet,A. M. Dijkstra,M. J. Bouva,J. van Der Krogt,K. Bijsterveld,F. van Der Sluijs,M. G. de Sain-van der Velden,K. Koop,A. Rossi,J. A. Thomas,C. A. Patera,M. B. G. Kiewiet,P. J. Waters,D. Cyr,A. Boelen,F. J. van Spronsen,M. R. Heiner-Fokkema

Journal of inherited metabolic disease（2023）

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maleic acid,maleylacetoacetate isomerase deficiency,tyrosinemia type 1,newborn screening,succinylacetone

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