Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 – A UK centre experience

20204 citationsJournal Article

Authors

Mildrid Yeo · Evelina London Children's Healthcare

Roshni Vara · Evelina London Children's Healthcare

Abstract

Dried blood spot monitoring for nitisinone and succinylacetone concentrations in hereditary tyrosinaemia type 1 patients is a rapid and convenient method which allows physicians to individualize treatment plans and observe adherence to treatment.

Topics & Keywords

Metabolism and Genetic Disorders Amino Acid Enzymes and Metabolism Biomedical Research and Pathophysiology

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Clinical Biochemistry International Journal of Laboratory Medicine

Volume 57, Issue 6, pp. 412-419

DOI: 10.1177/0004563220961760

Field-Weighted Citation Impact: 0.27