Associated Papers
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes.
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The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
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Proceedings of the National Academy of Sciences of the United States of America, 2022
36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S1
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