精神运动迟缓、癫痫发作和昏迷、易怒以及共济失调，与氨中毒、高血鸟氨酸水平和尿中同型瓜氨酸增加有关。 - Suppr

Suppr

超能文献

Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.

作者信息

Wright T, Pollitt R

出版信息

Proc R Soc Med. 1973 Mar;66(3):221. doi: 10.1177/003591577306600306.

DOI:10.1177/003591577306600306

PMID:4697977

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1644839/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b545/1644839/cc9e02c4e2d1/procrsmed00336-0015-a.jpg

相似文献

Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.精神运动迟缓、癫痫发作和昏迷、易怒以及共济失调，与氨中毒、高血鸟氨酸水平和尿中同型瓜氨酸增加有关。

Proc R Soc Med. 1973 Mar;66(3):221. doi: 10.1177/003591577306600306.

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与肌阵挛性癫痫和智力发育迟缓相关的新的氨基酸代谢紊乱疾病。

Am J Dis Child. 1969 Jan;117(1):83-92.

[Hyperornithinemia, hyperammonemia and homocitrullinuria syndrome in a family].[一个家族中的高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征]

Rinsho Shinkeigaku. 1987 Apr;27(4):465-71.

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与智力迟钝相关的疾病，可能由线粒体转运缺陷引起。

Am J Dis Child. 1974 May;127(5):752-6. doi: 10.1001/archpedi.1974.02110240138023.

Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征的产前诊断潜力。

Am J Med Genet. 1989 Feb;32(2):264. doi: 10.1002/ajmg.1320320228.

Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).HHH综合征（高氨血症、高鸟氨酸血症、同型瓜氨酸尿症）一例的研究。

Neuropediatrics. 1986 Feb;17(1):48-52. doi: 10.1055/s-2008-1052499.

The implications of hyperammonemia in rare and common disorders, including migraine.高氨血症在包括偏头痛在内的罕见和常见疾病中的影响。

Mt Sinai J Med. 1973 Sep-Oct;40(5):609-30.

[Feeble mindedness caused by genetic disorders of amino acid metabolism].

Hippokrates. 1968 May 31;39(10):357-67.

[Late diagnosis of congenital argininemia during administration of sodium valproate].[丙戊酸钠治疗期间先天性精氨酸血症的延迟诊断]

Rev Neurol (Paris). 1990;146(12):764-6.

A case of hyperlysinemia: biochemical and clinical observations.一例高赖氨酸血症：生化及临床观察

Pediatrics. 1967 Apr;39(4):546-54.

引用本文的文献

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.高鸟氨酸血症-高氨血症-同型瓜氨酸尿症综合征

Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9.

Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.鸟氨酸跨线粒体内膜转运减少作为高鸟氨酸血症的一个病因。

J Inherit Metab Dis. 1982;5(1):41-7. doi: 10.1007/BF01799753.

The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria.高鸟氨酸血症、高氨血症伴同型瓜氨酸尿症综合征中高氨血症和高鸟氨酸血症的机制。

J Inherit Metab Dis. 1983;6(3):133-4. doi: 10.1007/BF01800748.

A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.一个受高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征影响的新家族。

J Inherit Metab Dis. 1987;10(1):73-81. doi: 10.1007/BF01799492.

Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.高鸟氨酸血症-高氨血症-同型瓜氨酸尿症综合征、赖氨酸尿性蛋白不耐受症及回旋状萎缩症成纤维细胞中鸟氨酸代谢的比较

J Inherit Metab Dis. 1989;12(1):33-40. doi: 10.1007/BF01805528.

本文引用的文献

Am J Dis Child. 1969 Jan;117(1):83-92.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验