Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT...

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Detalles Bibliográficos
Autores principales: Mador-House, Rachel, Liu, Zaiping, Dyack, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395870/
https://www.ncbi.nlm.nih.gov/pubmed/34449523
http://dx.doi.org/10.3390/ijns7030055

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395870/
https://www.ncbi.nlm.nih.gov/pubmed/34449523
http://dx.doi.org/10.3390/ijns7030055

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