高氨血症：肝脏鸟氨酸转氨甲酰酶缺乏。母婴发病情况。 - Suppr

Suppr

超能文献

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

作者信息

Levin B, Abraham J M, Oberholzer V G, Burgess E A

出版信息

Arch Dis Child. 1969 Apr;44(234):152-61. doi: 10.1136/adc.44.234.152.

DOI:10.1136/adc.44.234.152

PMID:5779426

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2020046/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aeaf/2020046/49efcfa24283/archdisch01551-0014-a.jpg

相似文献

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.高氨血症：肝脏鸟氨酸转氨甲酰酶缺乏。母婴发病情况。

Arch Dis Child. 1969 Apr;44(234):152-61. doi: 10.1136/adc.44.234.152.

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.高氨血症。肝脏鸟氨酸转氨甲酰酶缺乏的一种变异类型。

Arch Dis Child. 1969 Apr;44(234):162-9. doi: 10.1136/adc.44.234.162.

Biochemical investigations of hyperammonaemia.高氨血症的生化研究

Lancet. 1969 Jul 26;2(7613):170-4. doi: 10.1016/s0140-6736(69)91419-6.

Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.一个患有鸟氨酸转氨甲酰酶缺乏症的家族的代谢和遗传学研究。

Pediatr Res. 1974 Jan;8(1):5-12. doi: 10.1203/00006450-197401000-00002.

[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].[由于肝脏和肠道鸟氨酸氨基甲酰转移酶的质量异常导致的遗传性高氨血症]

Arch Fr Pediatr. 1972 Aug-Sep;29(7):713-36.

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.由于肝脏鸟氨酸转氨甲酰酶缺陷导致的高氨血症。

Pediatrics. 1972 Jul;50(1):100-11.

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症X连锁显性遗传的证据。

N Engl J Med. 1973 Jan 4;288(1):7-12. doi: 10.1056/NEJM197301042880102.

Ornithine transcarbamylase deficiency in the newborn infant.新生儿鸟氨酸转氨甲酰酶缺乏症

J Pediatr. 1973 Apr;82(4):642-9. doi: 10.1016/s0022-3476(73)80590-6.

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.

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.由于鸟氨酸转氨甲酰酶突变酶导致的高氨血症。

Pediatrics. 1971 Oct;48(4):595-600.

引用本文的文献

Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.术后以激越性谵妄形式表现的未确诊的部分鸟氨酸转氨甲酰酶缺乏症

Neurohospitalist. 2018 Apr;8(2):82-85. doi: 10.1177/1941874417729983. Epub 2017 Sep 12.

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.

Recurrent abdominal pain in childhood.儿童复发性腹痛

Br Med J. 1980 Aug 2;281(6236):389. doi: 10.1136/bmj.281.6236.389.

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.

Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.利用胎儿肝活检进行鸟氨酸转氨甲酰酶缺乏症的产前诊断。

Am J Hum Genet. 1984 Mar;36(2):320-8.

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.

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.高氨血症。肝脏鸟氨酸转氨甲酰酶缺乏的一种变异类型。

Arch Dis Child. 1969 Apr;44(234):162-9. doi: 10.1136/adc.44.234.162.

Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.一名患有严重脑损伤婴儿的氨甲酰磷酸合成酶缺乏症

Arch Dis Child. 1969 Dec;44(238):688-93. doi: 10.1136/adc.44.238.688.

Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.一名因先天性尿素生成缺陷导致氨中毒的婴儿出现周期性嗜睡发作。

Arch Dis Child. 1969 Dec;44(238):681-7. doi: 10.1136/adc.44.238.681.

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.部分鸟氨酸氨甲酰基转移酶缺乏症：一种尿素循环的先天性代谢缺陷，在一名男婴中表现为乳清酸尿症。

Can Med Assoc J. 1972 Sep 9;107(5):405-8.

本文引用的文献

Argininosuccinic aciduria, an inborn error of amino acid metabolism.精氨琥珀酸尿症，一种氨基酸代谢的先天性疾病。

Arch Dis Child. 1961 Dec;36(190):622-32. doi: 10.1136/adc.36.190.622.

A SIMPLE METHOD FOR THE QUANTITATIVE DETERMINATION OF URINARY PSEUDOURIDINE AND SOME NEW ULTRAVIOLET-ABSORBING METABOLITES.一种定量测定尿中假尿苷及某些新的紫外线吸收代谢产物的简单方法。

J Lab Clin Med. 1965 Jun;65:1034-40.

THE RENAL EXCRETION OF HYDROGEN IONS IN INFANTS AND CHILDREN.婴儿和儿童体内氢离子的肾脏排泄

Arch Dis Child. 1965 Feb;40(209):33-9. doi: 10.1136/adc.40.209.33.

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.

The estimation of plasma ammonia by ion exchange.通过离子交换法测定血浆氨。

Clin Chim Acta. 1962 Mar;7:163-75. doi: 10.1016/0009-8981(62)90004-9.

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.

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.一种可能为遗传性的疾病，其特征为严重智力缺陷和氨基酸代谢持续明显异常。

Lancet. 1958 Jan 25;1(7013):182-7. doi: 10.1016/s0140-6736(58)90666-4.

The free amino acids of human blood plasma.人血浆中的游离氨基酸。

J Biol Chem. 1954 Dec;211(2):915-26.

Arginosuccine aciduria.精氨琥珀酸尿症

Am J Dis Child. 1967 Jan;113(1):162-5.

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