Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.
Hilde LaeremansCharles TurnerTommy AnderssonJose Angel Cocho de JuanAdam GerrardM Rebecca Heiner-FokkemaDiran HerebianNils JanzenGiancarlo la MarcaMattias RudebeckPublished in: JIMD reports (2020)
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.