Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (<5 μmol/l) is detected in their NBS dried blood spot. This leads to ~85% false positive referrals who all need an invasive, expensive and lengthy evaluation. We investiga...

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Detalles Bibliográficos
Autores principales: Crefcoeur, Loek L., Heiner‐Fokkema, M. Rebecca, Maase, Rose E., Visser, Gepke, de Sain‐van der Velden, Monique G. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830017/
https://www.ncbi.nlm.nih.gov/pubmed/36636597
http://dx.doi.org/10.1002/jmd2.12334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830017/
https://www.ncbi.nlm.nih.gov/pubmed/36636597
http://dx.doi.org/10.1002/jmd2.12334

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