Article
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Molecular genetics and metabolism - 1 Aug 1998
Yang B Z, Ding J H, Dewese T, Roe D, He G, Wilkinson J, Day D W, Demaugre F, Rabier D, Brivet M, Roe C
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency have been studied. All six unrelated patients in this study experienced the clinical symptoms of CPT II deficiency....
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