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

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 monitoring and...

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Publicat a:JIMD Rep
Autors principals: Laeremans, Hilde, Turner, Charles, Andersson, Tommy, de Juan, Jose Angel Cocho, Gerrard, Adam, Heiner‐Fokkema, M. Rebecca, Herebian, Diran, Janzen, Nils, la Marca, Giancarlo, Rudebeck, Mattias
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7203657/
https://ncbi.nlm.nih.gov/pubmed/32395414
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12112
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