Associated Papers
Phenotypic and molecular features of Thai patients with primary carnitine deficiency.
Liammongkolkul S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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: Table1.XLSX › TableS1
Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.
Zhou X et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2020
Molecular investigation in Chinese patients with primary carnitine deficiency.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2019
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