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

• Hoofdauteurs: Rachel Mador-House (Auteur), Zaiping Liu (Auteur), Sarah Dyack (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2021-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...