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

Abstract Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both SA and nitisinone for disease monito...

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Main Authors: Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2020-05-01
Serier:JIMD Reports
Fag:
dried blood spot
hereditary tyrosinemia type 1
nitisinone
succinylacetone
tandem mass spectrometry
Online adgang:https://doi.org/10.1002/jmd2.12112
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