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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203657/ https://www.ncbi.nlm.nih.gov/pubmed/32395414 http://dx.doi.org/10.1002/jmd2.12112 |
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