Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L et al.
Journal of Medical 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
36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S2
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
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
Rasmussen J et al.
Journal of Inherited Metabolic Disease, 2014
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC et al.
Human Mutation, 2012
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
De Biase I et al.
Jimd Reports, 2012
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.
Sarafoglou K et al.
Clinical Genetics, 2010
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA et al.
Molecular Genetics and Metabolism, 2007
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