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.
· Pediatrics and Neonatology · 0 citations