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

Publication

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

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

Type

Article

Language

en

Date

2023-08-06

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Title

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

Published in

J Inherit Metab Dis 2023; 46(6):1104-1113

DOI

10.1002/jimd.12669

PMID

URI

http://hdl.handle.net/10029/626893

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Scientific articles and other publications