Associated Papers
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
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY et al.
Human Mutation, 2010
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