| 1 |
孔元原，韩连书，杨艳玲，等. 鸟氨酸氨甲酰转移酶缺乏症诊治专家共识[J]. 浙江大学学报(医学版), 2020, 49(5): 539-547.
|
| 2 |
Seminara J, Tuchman M, Krivitzky L, et al. Establishing a consortium for the study of rare diseases: the Urea Cycle Disorders Consortium[J]. Mol Genet Metab, 2010, 100(Suppl 1): S97- S 105.
|
| 3 |
Donovan K, Guzman N. Ornithine transcarbamylase deficiency[M]. Treasure Island (FL): StatPearls, 2022.
|
| 4 |
Redant S, Empain A, Mugisha A, et al. Management of late onset urea cycle disorders-a remaining challenge for the intensivist？[J]. Ann Intensive Care, 2021, 11(1): 2.
|
| 5 |
Hertzog A, Selvanathan A, Halligan R, et al. A serendipitous journey to a promoter variant: the c．-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency[J]. JIMD Rep, 2022, 63(4): 271-275.
|
| 6 |
Haberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision[J]. J Inherit Metab Dis, 2019, 42(6): 1192-1230.
|
| 7 |
中国医师协会医学遗传医师分会临床生化专业委员会，中华医学会儿科学分会内分泌遗传代谢学组，中国妇幼保健协会儿童疾病和保健分会遗传代谢学组，等. 中国尿素循环障碍诊断治疗和管理指南[J]. 中华儿科杂志，2022, 60(11): 1118-1126.
|
| 8 |
Enosawa S, Horikawa R, Yamamoto A, et al. Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: a novel source of hepatocytes[J]. Liver Transpl, 2014, 20(3): 391-393.
|
| 9 |
Meyburg J, Opladen T, Spiekerkotter U, et al. Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders[J]. J Inherit Metab Dis, 2018, 41(1): 81-90.
|
| 10 |
Smets F, Dobbelaere D, Mckiernan P, et al. Phase I/II trial of liver-derived mesenchymal stem cells in pediatric liver-based metabolic disorders: a prospective, open label, multicenter, partially randomized, safety study of one cycle of heterologous human adult liver-derived progenitor cells (HepaStem) in urea cycle disorders and Crigler-Najjar syndrome patients[J]. Transplantation, 2019, 103(9): 1903-1915.
|
| 11 |
Prieve MG, Harvie P, Monahan SD, et al. Targeted mRNA therapy for ornithine transcarbamylase deficiency[J]. Mol Ther, 2018, 26(3): 801-813.
|
| 12 |
Baruteau J, Cunningham SC, Yilmaz BS, et al. Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys[J]. Mol Ther Methods Clin Dev, 2021, 23: 135-146.
|
| 13 |
De Sabbata G, Boisgerault F, Guarnaccia C, et al. Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector[J]. Mol Ther Methods Clin Dev, 2021, 20: 169-180.
|
| 14 |
Yang Y, Wang L, Bell P, et al. A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice[J]. Nat Biotechnol, 2016, 34(3): 334-338.
|
| 15 |
Wang L, Yang Y, Breton C, et al. A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency[J]. Sci Adv, 2020, 6(7): eaax5701.
|
| 16 |
Kim IK, Niemi AK, Krueger C, et al. Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience[J]. Pediatr Transplant, 2013, 17(2): 158-167.
|
| 17 |
Kido J, Matsumoto S, Mitsubuchi H, et al. Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment[J]. Metab Brain Dis, 2018, 33(5): 1517-1523.
|
| 18 |
Posset R, Gropman AL, Nagamani SCS, et al. Impact of diagnosis and therapy on cognitive function in urea cycle disorders[J]. Ann Neurol, 2019, 86(1): 116-128.
|
| 19 |
Kido J, Matsumoto S, Häberle J, et al. Role of liver transplantation in urea cycle disorders: report from a nationwide study in Japan[J]. J Inherit Metab Dis, 2021, 44(6): 1311-1322.
|
| 20 |
Wakiya T, Sanada Y, Mizuta K, et al. Living donor liver transplantation for ornithine transcarbamylase deficiency[J]. Pediatr Transplant, 2011, 15(4): 390-395.
|
| 21 |
Campeau PM, Pivalizza PJ, Miller G, et al. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study[J]. Mol Genet Metab, 2010, 100 (Suppl 1): S84- S87.
|
| 22 |
Teufel U, Weitz J, Flechtenmacher C, et al. High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure[J]. Pediatr Transplant, 2011, 15(6): E110- E115.
|
| 23 |
Gallagher RC, Lam C, Wong D, et al. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency[J]. J Pediatr, 2014, 164(4): 720-725.e6.
|
| 24 |
Largilliere C, Houssin D, Gottrand F, et al. Liver transplantation for ornithine transcarbamylase deficiency in a girl[J]. J Pediatr, 1989, 115(3): 415-417.
|
| 25 |
Takanashi J, Kurihara A, Tomita M, et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency[J]. Neurology, 2002, 59(2): 210-214.
|
| 26 |
Fu XH, Hu YH, Liao JX, et al. Liver transplantation for late-onset ornithine transcarbamylase deficiency: a case report[J]. World J Clin Cases, 2022, 10(18): 6156-6162.
|
| 27 |
Jin X, Zeng X, Zhao D, et al. Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: a case report and review of the literature[J]. Brain Behav, 2022, 12(10): e2765.
|
| 28 |
Kido J, Matsumoto S, Häberle J, et al. Long-term outcome of urea cycle disorders: report from a nationwide study in Japan[J]. J Inherit Metab Dis, 2021, 44(4): 826-837.
|
| 29 |
Scharre S, Posset R, Garbade SF, et al. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency[J]. Ann Clin Transl Neurol, 2022, 9(11): 1715-1726.
|
| 30 |
Wakiya T, Sanada Y, Urahashi T, et al. Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency[J]. Mol Genet Metab, 2012, 105(3): 404-407.
|
| 31 |
Kido J, Sugawara K, Sawada T, et al. Pathogenic variants of ornithine transcarbamylase deficiency: nation-wide study in Japan and literature review[J]. Front Genet, 2022, 13: 952467.
|
| 32 |
Nakamura K, Kido J, Matsumoto S, et al. Clinical manifestations and growth of patients with urea cycle disorders in Japan[J]. J Hum Genet, 2016, 61(7): 613-616.
|
| 33 |
Hong SK, Yi NJ, Yoon KC, et al. Outcomes of pediatric liver transplantation in Korea using two national registries[J]. J Clin Med, 2020, 9(11)：3435.
|
| 34 |
Kasahara M, Sakamoto S, Horikawa R, et al. Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry[J]. Pediatr Transplant, 2014, 18(1): 6-15.
|
| 35 |
Morioka D, Kasahara M, Takada Y, et al. Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide english literature and 13 cases at Kyoto University[J]. Liver Transpl, 2005, 11(11): 1332-1342.
|
| 36 |
Dong C, Song Z, Meng X, et al. Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders[J]. Pediatr Surg Int, 2020, 36(12): 1443-1450.
|
| 37 |
Morioka D, Kasahara M, Takada Y, et al. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders[J]. Am J Transplant, 2005, 5(11): 2754-2763.
|
| 38 |
Wakiya T, Sanada Y, Urahashi T, et al. Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency[J]. Pediatr Transplant, 2012, 16(6): E196- E200.
|
| 39 |
Rahayatri TH, Uchida H, Sasaki K, et al. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors[J]. Pediatr Transplant, 2017, 21(1) ： 10.1111/petr.12848.
|
| 40 |
Batshaw ML, Robinson MB, Ye X, et al. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency[J]. Pediatr Res, 1999, 46(5): 588-593.
|
| 41 |
Lu D, Han F, Qiu W, et al. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency[J]. Orphanet J Rare Dis, 2020, 15(1): 340.
|
| 42 |
孙丽莹，朱志军. 尿素循环障碍的肝移植治疗[J]. 中国实用儿科杂志，2021, 36(10): 768-771.
|
| 43 |
Huang HP, Chien YH, Huang LM, et al. Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism[J]. J Formos Med Assoc, 2005, 104(9): 623-629.
|
| 44 |
Ziogas IA, Wu WK, Matsuoka LK, et al. Liver transplantation in children with urea cycle disorders: the importance of minimizing waiting time[J]. Liver Transpl, 2021, 27(12): 1799-1810.
|