Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
- 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
DOIAbstract
We investigated clinical, genetic (variants in SLC22A5 gene) and functional (carnitine transport activity in fibroblasts) characteristics of all referred individuals through NBS (newborns and mothers) and clinically diagnosed patients with PCD (not through NBS). Disease phenotype in newborns was predicted using data from PCD mothers and cases published in literature with identical SLC22A5 variants
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