Associated Papers
Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.
Hu H et al.
Italian Journal of Pediatrics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
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: Table1.XLSX › TableS1
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2021
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