[1] Smith W,Kishnani P S, Lee B,et al. Urea cycle disorders:clinical presentation outside the new born period[J].Crit Care Clin,2005, 21(4 Suppl):S9-17. [2] Walker V. Ammonia toxicity and its prevention in inherited defects of the urea cycle[J]. Diabetes Obes Metab,2009,11(9):823-835. [3] Ensenauer R, Tuchman M, El-Youssef M,et al. Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life[J].Mol Genet Metab,2005,84(4):363-366. [4] Aiuti A, Bachoud-Lévi A C, Blesch A, et al. Progress and prospects:gene therapy clinical trials(Part2)[J]. Gene Ther,2007,14(22):1555-1563. [5] Wakiya T,Sanada Y,Mizuta K,et al. Living donor liver transplantation for ornithine transcarbamylase deficiency[J]. Pediatr Transplant,2011,15(4):390-395. [6] Arraz J A, Riudor E, Marco-Marin C, et al. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential[J].J Inherit Metab Dis,2007,30(2):217-226. [7] Yamaguchi S, Brailey L L, Morizono H, et al. Mutations and polymorphisms in the human ornithine transcarbamylase(OTC)gene[J].Hum Mutat,2006, 27(7):626-632. [8] 杨艳玲.遗传性代谢病的治疗原则[J].中国实用儿科杂志,2004,19(10):580-583. [9] Arbeiter A K,Kranz B,Wingen A M,et al. Continuous venovenous haemodialysis(CVVHD)and continuous peritoneal dialysis(CPD) in the acute management of 21 children with inborn errors of metabolism[J]. Nephrol Dial Transplant,2010,5(4):1257-1265. [10] Spinale J M,Laskin B L,Sondheimer N,et al. High-dose continuous renal replacement therapy for neonatal hyperammonemia[J]. Pediatr Nephrol,2013,28(6):983-986. [11] Häberle J,Boddaert N,Burlina A,et al. Suggested guidelines for the diagnosis and management of urea cycle disorders[J].Orphanet J Rare Dis,2012,7:32. [12] Wraith J E. Ornithine carbamoyltransferase deficiency[J]. Arch Dis Child,2001,84(1):84-88. [13] McDiarmid S V,Merion R M,Dykstra D M, et al. Selection of pediatric candidates under the PELD system[J].Liver Transpl, 2004,10(10 Suppl 2):S23-30. [14] Campeau P M, Pivalizza P J, Miller G,et al. Early orthotopicliver transplantation in urea cycle defects:follow up of adevelopmental outcome study[J]. Mol Genet Metab,2010,100 Suppl 1:84-87. [15] Kasahara M, Sakamoto S, Shigeta T,et al.Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency[J]. Pediatr Transplant,2010,14(8):1036-1040. [16] 李姗霓,马楠,孙超,等.儿童肝移植的主要适应证[J].实用器官移植电子杂志,2014,2(5):310-316. |