Associated Papers
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
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
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
Lin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
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