Associated Papers
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
Sigauke E et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L et al.
Human Mutation, 2003
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K et al.
Human Mutation, 1998
[Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene].
Akanuma J et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997
[Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency].
Akanuma J et al.
Rinsho Shinkeigaku = Clinical Neurology, 1997
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