Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

Hilde Laeremans,Charles Turner, Tommy Andersson,Jose Angel Cocho de Juan, Adam Gerrard,M Rebecca Heiner-Fokkema,Diran Herebian,Nils Janzen,Giancarlo la Marca,Mattias Rudebeck

JIMD reports（2020）

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摘要

The study provides guidance for the determination of nitisinone and SA from DBS and the interpretation of results in the clinic. Inter-laboratory analytical harmonization was demonstrated through calibration improvements.

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关键词

dried blood spot,hereditary tyrosinemia type 1,nitisinone,succinylacetone,tandem mass spectrometry

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