A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

Abstract Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify, mostly asymptomatic, mothers with primary carnit...

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Bibliographic Details
Main Authors: Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Newborn screening
Maternal primary carnitine deficiency
OCTN2 deficiency
Experience
Opinion
Mothers
Online Access:https://doi.org/10.1186/s13023-023-02735-0

Internet

https://doi.org/10.1186/s13023-023-02735-0

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