A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference16 articles.
1. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation;Houten;J. Inherit. Metab. Dis.,2010
2. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy;Yao;Hum. Mutat.,2008
3. Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial outer and inner membranes;Murthy;Biochem. J.,1987
4. Carnitine palmitoyltransferase II deficiency;Wieser,1993
5. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency;Yasuno;Clin. Genet.,2008
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