Associated Papers
Primary Carnitine Deficiency: A Stitch in Time Saves Nine.
Saranya S D et al.
Indian Journal of Pediatrics, 2026
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
40624458 (PubMed )
Supplement: 12863_2025_1336_MOESM1_ESM.xlsx › 196
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Hanington OP et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
38125748 (PubMed )
Supplement: Table2.XLSX › TableS2
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Ferdinandusse S et al.
Human Mutation, 2019
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