Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG et al.
Bmc Cardiovascular Disorders, 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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Lipid storage myopathies: Current treatments and future directions.
Vasiljevski ER et al.
Progress in Lipid Research, 2018
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
Lahrouchi N et al.
European Journal of Human Genetics : Ejhg, 2017
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Chen YC et al.
Human Mutation, 2013
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