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

202013 citationsJournal Articlegold Open Access

Authors

Hilde Laeremans

Charles Turner · WellChild

Tommy Andersson · Swedish Orphan Biovitrum (Sweden)

José Ángel Cocho de Juan · Complejo Hospitalario Universitario de Santiago

Adam Gerrard · Birmingham Children's Hospital

M. Rebecca Heiner‐Fokkema · University of Groningen

Diran Herebıan · Heinrich Heine University Düsseldorf

Abstract

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.

Topics & Keywords

Metabolism and Genetic Disorders Amino Acid Enzymes and Metabolism Blood disorders and treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: JIMD Reports

Volume 53, Issue 1, pp. 90-102

DOI: 10.1002/jmd2.12112

Field-Weighted Citation Impact: 1.22