Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency

Background: Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (<10 μmol/L) is detected, leading to high false-positive referrals. To improve the follow-up protocol for PCD, various acylcarnitines and the summations were comprehensively evaluated...

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Bibliographic Details
Main Authors: Haijuan Zhi, Siyu Chang, Ting Chen, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:International Journal of Neonatal Screening
Subjects:
primary carnitine deficiency
free carnitine
acylcarnitine summation
machine learning
screening and diagnosis
false positive
Online Access:https://www.mdpi.com/2409-515X/11/2/47
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