由于鸟氨酸转氨甲酰酶突变酶导致的高氨血症。 - Suppr

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超能文献

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.

作者信息

Matsuda I, Arashima S, Nambu H, Takekoshi Y, Anakura M

出版信息

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

PMID:5114747

Abstract

摘要

相似文献

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.

[Hyperammonemia--congenital abnormality of the urea cycle].[高氨血症——尿素循环的先天性异常]

Saishin Igaku. 1972 Apr;27(4):730-42.

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.

[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.

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.鸟氨酸转氨甲酰酶缺乏症：男性致死性新生儿高氨血症的一个病因。

N Engl J Med. 1973 Jan 4;288(1):1-6. doi: 10.1056/NEJM197301042880101.

Study of enzyme defect in a case of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症一例的酶缺陷研究。

Diabete Metab. 1978 Dec;4(4):239-41.

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.

Hyperammonemia: a deficiency of liver ornithine transcarbamylase.

Paediatr Univ Tokyo. 1970 Dec;18:167-73.

[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].[一个人类鸟氨酸氨甲酰基转移酶结构基因突变的新家族]

Arch Fr Pediatr. 1978 May;35(5):512-8.

[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency].

Arch Fr Pediatr. 1972 May;29(5):493-504.

引用本文的文献

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.

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

Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.20个家族中的高氨血症。生化与遗传学调查，包括对3个新家族的研究。

Arch Dis Child. 1974 Jun;49(6):443-9. doi: 10.1136/adc.49.6.443.

Hyperammonemia through deficiency of ornithine carbamyl transferase.鸟氨酸氨甲酰基转移酶缺乏所致高氨血症

Z Kinderheilkd. 1974;118(3):231-47. doi: 10.1007/BF00464614.

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体

J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.

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。

Virchows Arch A Pathol Anat Histopathol. 1985;408(2-3):259-68. doi: 10.1007/BF00707988.

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.

Autosomal genetic control of the activity of a new variant ornithine transcarbamylase in chicken kidney.

Biochem Genet. 1976 Jun;14(5-6):507-15. doi: 10.1007/BF00486130.

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