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 and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
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
Carnitine transport: pathophysiology and metabolism of known molecular defects.
Tein I
Journal of Inherited Metabolic Disease, 2003
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
Lamhonwah AM et al.
American Journal of Medical Genetics, 2002
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
Wang Y et al.
Human Mutation, 2000
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
Wang Y et al.
Human Mutation, 2000
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
Wang Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
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