Associated Papers
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
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Doshi BS et al.
American Journal of Blood Research, 2014
Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.
Morillas M et al.
The Biochemical Journal, 2004
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity.
Morillas M et al.
The Journal of Biological Chemistry, 2001
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
Brown NF et al.
Journal of Lipid Research, 2001
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