Associated Papers
Structural basis of sodium ion-dependent carnitine transport by OCTN2.
Davies JS et al.
Nature Communications, 2025
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
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
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Hanington OP et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Crefcoeur LL et al.
Journal of Inherited Metabolic Disease, 2022
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Carnitine deficiency induces a short QT syndrome.
Roussel J et al.
Heart Rhythm, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Chen YC et al.
Human Mutation, 2013