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

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 carnitine defi...

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Detalles Bibliográficos
Autores principales: van den Heuvel, Lieke M., Kater-Kuipers, Adriana, van Dijk, Tessa, Crefcoeur, Loek L., Visser, Gepke, Langeveld, Mirjam, Henneman, Lidewij
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236393/
https://www.ncbi.nlm.nih.gov/pubmed/37268964
http://dx.doi.org/10.1186/s13023-023-02735-0

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