Article
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Clinical genetics - 1 May 2008
Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, Ohtake A, Kanazawa M, Ogawa A, Tojo K, Saito T
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited disorder involving beta-oxidation of long-chain fatty acids. CPT II deficiency is a wide-spectrum disorder that includes a lethal neonatal form, an infantile form, and an adult-onset form. However, the ethnic characteristics and the relationship between genotype and clinical manifestation are not well understood. We investigated three...
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