［1］Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR,  et al. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency［J］. Mol Genet Metab, 2008, 94(4):422-427.
［2］Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, et al. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency［J］. Clin Genet, 2008, 73(5):496-501.
［3］Gentili A, Iannella E, Masciopinto F, Latrofa ME, Giuntoli L, Baroncini S. Rhabdomyolysis and respiratory failure: rare presentation of carnitine palmityl-transferase II deficiency［J］. Minerva Anestesiol, 2008, 74(5):205-208.
［4］Uzel B, Altiparmak MR, Ataman R, Serdengecti K. Acute renal failure due to carnitine palmitoyltransferase II deficiency［J］. Neth J Med, 2003, 61(12):417-420.
［5］Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, et al. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency［J］. J Neurol Sci, 2008, 266(1-2):97-103.
［6］钱宁，侯新琳，杨艳玲. 肉碱缺乏症与儿童疾病［J］. 中国当代儿科杂志, 2004, 6（4）：349-352.