Associated Papers
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
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
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
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N
Annals of Nutrition & Metabolism, 2016
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Shibbani K et al.
Clinical Genetics, 2014
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC et al.
Human Mutation, 2012
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
Amat di San Filippo C et al.
Human Mutation, 2006
Disorders of carnitine transport and the carnitine cycle.
Longo N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
Dobrowolski SF et al.
Human Mutation, 2005
Phenotype and genotype variation in primary carnitine deficiency.
Wang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0