Associated Papers
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.
Tu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Structural basis of sodium ion-dependent carnitine transport by OCTN2.
Davies JS et al.
Nature Communications, 2025
Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.
Zhang S et al.
Bmc Pediatrics, 2025
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
Select a paper to view details