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
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
Citations
Altmetric:
Series / Report no.
Open Access
Type
Article
Language
en
Date of publication
2023-07-24
Year of publication
Research Projects
Organizational Units
Journal Issue
Title
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Translated Title
Published in
J Med Genet 2023; 60(12):1177-1185
Abstract
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.