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
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
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
Ogawa E et al.
Journal of Human Genetics, 2002
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