Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach

Joshua A. Dubland,Bojana Rakic,Hilary Vallance,Graham Sinclair

Journal of Mass Spectrometry and Advances in the Clinical Lab（2021）

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摘要

•Analysis of 2-methylcitric acid, methylmalonic acid, and homocysteine in DBS.•A dual derivatization LC-MS/MS strategy developed for use in second-tier NBS.•Second-tier panel replaces multiple initial follow-up tests.•Improved workflows without the use of ion pairing reagents in the LC mobile phases.•Anticipated increase in diagnostic specificity and reduction of parental anxiety.

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关键词

C3,C2,Cbl,CBS,DBS,DAABD-AE,DMAP,DTT,EDC,ESI,FA,GC,GPCho’s,HCl,HCY,LC,LLOD,LLOQ,MCA,Met,MMA,MPs,MS,MRM,MS/MS,NBS,Phe,PPV,QC,rpm,S/N

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