Associated Papers
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
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
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