Partial ornithine transcarbamylase deficiency simulating Reye syndrome.

Suppr

超能文献

作者信息

Yokoi T, Honke K, Funabashi T, Hayashi R, Suzuki Y, Taniguchi N, Hosoya M, Saheki T

出版信息

J Pediatr. 1981 Dec;99(6):929-31. doi: 10.1016/s0022-3476(81)80025-x.

DOI:10.1016/s0022-3476(81)80025-x

PMID:7310587

Abstract

摘要

相似文献

Partial ornithine transcarbamylase deficiency simulating Reye syndrome.

J Pediatr. 1981 Dec;99(6):929-31. doi: 10.1016/s0022-3476(81)80025-x.

[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].[鸟氨酸转氨甲酰酶先天性缺乏症。两例临床病例描述]

Minerva Pediatr. 1983 Mar 15;35(5):219-24.

Recurrent Reye's syndrome without liver lipid deposition.

Hosp Pract (Hosp Ed). 1981 Feb;16(2):45-51. doi: 10.1080/21548331.1981.11946724.

Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance.尿素生成障碍时肝脏的局灶性糖原贮积症：其发生情况及诊断意义。

Hepatology. 1997 Aug;26(2):365-73. doi: 10.1002/hep.510260217.

[Reye's syndrome].

Pediatr Pol. 1982 Nov;57(11):981-8.

Reye-like syndrome associated with use of insect repellent in a presumed heterozygote for ornithine carbamoyl transferase deficiency.在一名推测为鸟氨酸氨甲酰基转移酶缺乏症杂合子的患者中，使用驱虫剂后出现了类瑞氏综合征。

J Pediatr. 1980 Sep;97(3):471-3. doi: 10.1016/s0022-3476(80)80209-5.

[Reye's syndrome associated with transient ornithine-transcarbamylase deficiency (author's transl)].

Lijec Vjesn. 1981 Aug;103(8):332-6.

Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.瑞氏综合征患儿肝脏中氨甲酰磷酸合成酶和鸟氨酸转氨甲酰酶的活性短暂降低。

N Engl J Med. 1976 Apr 15;294(16):861-7. doi: 10.1056/NEJM197604152941602.

Ornithine transcarbamylase variant in a male patient.一名男性患者中的鸟氨酸转氨甲酰酶变异体。

J Inherit Metab Dis. 1987;10(3):272. doi: 10.1007/BF01800077.

Amino acid pattern in Reye syndrome: comparison with clinically similar entities.

J Pediatr. 1981 May;98(5):788-90. doi: 10.1016/s0022-3476(81)80849-9.

引用本文的文献

Ornithine Transcarbamylase - From Structure to Metabolism: An Update.鸟氨酸转氨甲酰酶——从结构到代谢：最新进展

Front Physiol. 2021 Oct 1;12:748249. doi: 10.3389/fphys.2021.748249. eCollection 2021.

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。

J Pediatr. 2014 Apr;164(4):720-725.e6. doi: 10.1016/j.jpeds.2013.12.024. Epub 2014 Jan 30.

X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。

Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.

Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.缺乏酶蛋白的鸟氨酸转氨甲酰酶缺乏症的分子基础。

J Inherit Metab Dis. 1984;7(1):2-8. doi: 10.1007/BF01805609.

Late onset ornithine carbamoyl transferase deficiency in males.男性迟发性鸟氨酸氨甲酰基转移酶缺乏症

Arch Dis Child. 1988 Nov;63(11):1363-7. doi: 10.1136/adc.63.11.1363.

Structural organization of the human ornithine transcarbamylase gene.人类鸟氨酸转氨甲酰酶基因的结构组织

J Inherit Metab Dis. 1988;11(3):337-40. doi: 10.1007/BF01800388.

Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.鸟氨酸转氨甲酰酶缺乏症：一例具有截短酶前体的病例和一例mRNA活性检测不到的病例。

J Inherit Metab Dis. 1986;9(2):175-85. doi: 10.1007/BF01799456.

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.两名患有轻度鸟氨酸转氨甲酰酶缺乏症的无关男性患者中，鸟氨酸转氨甲酰酶基因第8外显子出现一种新的错义突变。

Hum Genet. 1991 May;87(1):28-32. doi: 10.1007/BF01213087.

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