| [1] |
Ibrahim MS, Gold JI, Woodall A, et al. Diagnostic and mana-gement issues in patients with late-onset ornithine transcarba-mylase deficiency[J]. Children(Basel), 2023, 10(8):1368.
|
| [2] |
Kazmierski D, Sharma N, O’Leary K, et al. Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency[J]. BMJ Case Rep, 2021, 14(5):e241429.
DOI
URL
|
| [3] |
Posset R, Garbade SF, Boy N, et al. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases[J]. J Inherit Metab Dis, 2019, 42(1):93-106.
DOI
PMID
|
| [4] |
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.
DOI
URL
|
| [5] |
夏姗姗, 陈晓飞, 丁亚平, 等. 迟发型鸟氨酸氨甲酰转移酶缺乏症并发肝性脑病急性期患儿的护理[J]. 中华急危重症护理杂志, 2023, 4(4):334-337.
|
|
Xia SS, Chen XF, Ding YP, et al. Nursing care of a child with acute hepatic encephalopathy caused by late-onset ornithine carbamoyltransferase deficiency[J]. Chin J Emerg Crit Care Nurs, 2023, 4(4):334-337.
|
| [6] |
中国妇幼保健协会儿童疾病和保健分会遗传代谢学组. 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.
|
|
Division of Genetics and Metabolism of Child Diseases and Health Care Branch of Chinese Association for Maternal and Child Health. Consensus on diagnosis and treatment of orni-thine trans-carbamylase deficiency[J]. J Zhejiang Univ Med Sci, 2020, 49(5):539-547.
|
| [7] |
Squires JE, Alonso EM, Ibrahim SH, et al. North American so-ciety for pediatric gastroenterology,hepatology,and nutrition position paper on the diagnosis and management of pediatric acute liver failure[J]. J Pediatr Gastroenterol Nutr, 2022, 74(1):138-158.
DOI
URL
|
| [8] |
赵洋洋, 潘文彦, 程立宏, 等. 肝移植围手术期患者血液净化抗凝管理的最佳证据总结[J]. 中华护理杂志, 2024, 59(17):2138-2146.
DOI
URL
|
|
Zhao YY, Pan WY, Cheng LH, et al. Best evidence summary for anticoagulation management in blood purification of perio-perative liver transplantation patients[J]. Chin J Nurs, 2024, 59(17):2138-2146.
|
| [9] |
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.
|
|
Clinical Biochemistry Professional Committee of the Medical Genetics Physicians Branch of the Chinese Medical Doctor Association,Endocrine Genetics and Metabolism Group of the Pediatrics Branch of the Chinese Medical Association, Genetics and Metabolism Group of the Children’s Disease and Health Care Branch of the Chinese Maternal and Child Health Asso-ciation, et al. Guidelines for diagnosis,treatment and manage-ment of urea cycle disorders in China[J]. Chin J Pediatr, 2022, 60(11):1118-1126.
|
| [10] |
Häberle J, Burlina A, Chakrapani A, et al. Suggested guide-lines for the diagnosis and management of urea cycle disor-ders:first revision[J]. J Inherit Metab Dis, 2019, 42(6):1192-1230.
DOI
URL
|
| [11] |
乔悦, 刘庆伟, 林辉, 等. 中青年肝移植患者疾病管理的旅程地图研究[J]. 中华护理杂志, 2025, 60(15):1850-1857.
DOI
URL
|
|
Qiao Y, Liu QW, Lin H, et al. A journey map study of di-sease management in young and middle-aged liver transplant recipients[J]. Chin J Nurs, 2025, 60(15):1850-1857.
|