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Acute Fulminant Encephalopathy in an Adult due to Ornithine Transcarbamylase Deficiency.

作者信息

Nambiar Vivek K, Shridharani Aakash, Kannoth Sudheeran, Gopinath Siby, Kumar Anand

机构信息

Department of Stroke Medicine, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

Department of Neurology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

出版信息

Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):722-724. doi: 10.4103/aian.aian_1028_21. Epub 2022 Aug 4.

DOI:10.4103/aian.aian_1028_21
PMID:36211161
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9540967/
Abstract
摘要

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Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting.尿素循环障碍导致的高血氨症：重症监护环境中一种潜在致命的病症。
J Intensive Care. 2014 Mar 13;2(1):22. doi: 10.1186/2052-0492-2-22. eCollection 2014.
2
Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults.尿素循环障碍：成人代谢性脑病的一种危及生命但可治疗的病因。
Pract Neurol. 2015 Feb;15(1):45-8. doi: 10.1136/practneurol-2014-000916. Epub 2014 Aug 14.
3
Astrocyte glutamine synthetase: importance in hyperammonemic syndromes and potential target for therapy.星形胶质细胞谷氨酰胺合成酶：在高血氨综合征中的重要性及治疗的潜在靶点。
Neurotherapeutics. 2010 Oct;7(4):452-70. doi: 10.1016/j.nurt.2010.05.015.
4
[Urea cycle disorders in adult patients].成年患者的尿素循环障碍
Rev Neurol (Paris). 2007 Oct;163(10):897-903. doi: 10.1016/s0035-3787(07)92632-6.
5
Renal replacement therapy in the treatment of confirmed or suspected inborn errors of metabolism.肾脏替代疗法在确诊或疑似先天性代谢缺陷病治疗中的应用
J Pediatr. 2006 Jun;148(6):770-8. doi: 10.1016/j.jpeds.2006.01.004.
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Genetic counseling issues in urea cycle disorders.尿素循环障碍中的遗传咨询问题。
Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. doi: 10.1016/j.ccc.2005.08.001.
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Unmasked adult-onset urea cycle disorders in the critical care setting.重症监护环境下未被识别的成人起病尿素循环障碍
Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. doi: 10.1016/j.ccc.2005.05.002.
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Urea Cycle Disorders.尿素循环障碍
Curr Treat Options Neurol. 2003 Jul;5(4):309-319. doi: 10.1007/s11940-003-0037-5.
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Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency.成人未确诊的部分鸟氨酸转氨甲酰酶缺乏症高氨血症昏迷患者的持续静静脉血液滤过
Nephrol Dial Transplant. 1999 May;14(5):1282-4. doi: 10.1093/ndt/14.5.1282.
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