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）

引用 0|浏览8

暂无评分

摘要

MAAI-D is a recognizable cause of false-positive TT1 NBS results. Elevated urine maleic acid excretion seems highly effective in discriminating MAAI-D from TT1. This article is protected by copyright. All rights reserved.

查看译文

关键词

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

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要