Associated Papers
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
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
36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S7
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
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N
Annals of Nutrition & Metabolism, 2016
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
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
Wang Y et al.
Human Mutation, 2000
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
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