Associated Papers
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
40624458 (PubMed )
Supplement: 12863_2025_1336_MOESM1_ESM.xlsx › 196
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: Table4.XLSX › TableS4
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
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
Substrate discrimination by ergothioneine transporter SLC22A4 and carnitine transporter SLC22A5: gain-of-function by interchange of selected amino acids.
Bacher P et al.
Biochimica Et Biophysica Acta, 2009
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
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