Article
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Journal of medical genetics - 27 Nov 2023
Crefcoeur Loek, Ferdinandusse Sacha, van der Crabben Saskia N, Dekkers Eugènie, Fuchs Sabine A, Huidekoper Hidde, Janssen Mirian, Langendonk Janneke, Maase Rose, de Sain Monique, Rubio Estela, van Spronsen Francjan J, Vaz Frédéric Maxime, Verschoof Rendelien, de Vries Maaike, Wijburg Frits, Visser Gepke, Langeveld Mirjam
Abstract excerpt
BACKGROUND: Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer this question for primary carnitine deficiency (PCD) taking into account that NBS for PCD identifies newborns with PCD and also until then undiagnosed mothers. METHODS: We investigated clinical, genetic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.