鸟氨酸转氨甲酰酶缺乏所致高氨血症。 - Suppr

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Hyperammonaemia due to ornithine transcarbamylase deficiency.

作者信息

Hopkins I J, Connelly J F, Dawson A G, Hird F J, Maddison T G

出版信息

Arch Dis Child. 1969 Apr;44(234):143-8. doi: 10.1136/adc.44.234.143.

DOI:10.1136/adc.44.234.143

PMID:21032452

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2020044/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4cf/2020044/caa392d646ec/archdisch01551-0004-a.jpg

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引用本文的文献

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.女性以血清转氨酶水平延迟峰值为表现的鸟氨酸转氨甲酰酶缺乏症所致急性肝功能障碍。

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Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.精氨酸代琥珀酸合成酶缺乏症患者的显著肝脏受累。

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Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.一种新的尿素合成先天性疾病中的肝脏病理学：N-乙酰谷氨酸合成酶缺乏症。

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Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.尝试对一名因鸟氨酸转移酶缺乏导致高氨血症的男孩进行饮食治疗。

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Citrullinemia.瓜氨酸血症

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本文引用的文献

CONGENITAL LYSINE INTOLERANCE WITH PERIODIC AMMONIA INTOXICATION.

Lancet. 1964 May 9;1(7341):1014-5. doi: 10.1016/s0140-6736(64)91924-5.

CITRULLINURIA.瓜氨酸尿症

Pediatrics. 1963 Sep;32:347-57.

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.高氨血症。尿素生物合成先天性酶缺陷的一个新病例。

Lancet. 1962 Oct 6;2(7258):699-700. doi: 10.1016/s0140-6736(62)90508-1.

Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.精氨基琥珀酸尿症：一种新描述的精神疾病中异常代谢产物的鉴定与反应，以及一些初步的代谢研究

Biochem J. 1960 Oct;77(1):135-44. doi: 10.1042/bj0770135.

Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.尿素合成的比较生物化学。I. 肝脏中尿素循环酶的定量测定方法。

J Biol Chem. 1959 Jul;234(7):1769-74.

Free amino-acids in human sweat from different parts of the body.来自人体不同部位汗液中的游离氨基酸。

Nature. 1967 Jul 22;215(5099):416-7. doi: 10.1038/215416a0.

Treatment of hyperammonemia.

Am J Dis Child. 1967 Jan;113(1):142-5. doi: 10.1001/archpedi.1967.02090160192031.

Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.腹膜透析用于降低一例高氨血症患者的血氨水平。

Arch Dis Child. 1969 Apr;44(234):149-51. doi: 10.1136/adc.44.234.149.

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