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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Yongxing Chen

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Open access Sep 2026

Disease spectrum and genetic profile of high-risk children with severe carnitine deficiency.

BACKGROUND Severe free carnitine deficiency (C0 ≤5 μmol/L) is frequently observed in pediatric patients suspected of primary carnitine deficiency (PCD), though confirmed diagnoses remain rare. This study aimed to analyze the disease spectrum and genetic profile of high-risk children with severe reduced carnitine levels...

Jing Liu, Zhen-Hua Xie, Meng-Jun Xiao et al. · 0 citations

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