Associated Papers
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
Bernhardt I et al.
Jimd Reports, 2022
Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.
Gan Y et al.
Italian Journal of Pediatrics, 2021
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.
Schlaepfer IR et al.
Endocrinology, 2020
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
Gobin S et al.
The Journal of Biological Chemistry, 2003
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