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

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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Bibliographic Details
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: Article
Language:English
Published: Wiley 2020-05-01
Series:JIMD Reports
Subjects:
dried blood spot
hereditary tyrosinemia type 1
nitisinone
succinylacetone
tandem mass spectrometry
Online Access:https://doi.org/10.1002/jmd2.12112

Internet

https://doi.org/10.1002/jmd2.12112

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