Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
作者信息
Levin B, Dobbs R H, Burgess E A, Palmer T
出版信息
Arch Dis Child. 1969 Apr;44(234):162-9. doi: 10.1136/adc.44.234.162.
Abstract
摘要
相似文献
1
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.
2
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。
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[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]
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5
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。
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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。
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Ornithine transcarbamylase deficiency in the newborn infant.新生儿鸟氨酸转氨甲酰酶缺乏症
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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。
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9
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。
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Hyperammonemia: a deficiency of liver ornithine transcarbamylase.
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Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase.
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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。
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Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.
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Carrier detection in ornithine transcarbamylase deficiency.
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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.
8
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
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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。
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10
Quantitative assay of enzymes in tissues.组织中酶的定量测定。
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本文引用的文献
1
ON THE DETERMINATION OF ORNITHINE-CARBAMYL-TRANSFERASE ACTIVITY.论鸟氨酸-氨甲酰基转移酶活性的测定
Clin Chim Acta. 1964 Jan;9:95-6. doi: 10.1016/0009-8981(64)90054-3.
2
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.
3
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.
4
Pathogenesis and management of hepatic coma.肝昏迷的发病机制与治疗
Am J Med. 1958 May;24(5):805-13. doi: 10.1016/0002-9343(58)90382-6.
5
Episodic stupor associated with an Eck fistula in the human with particular reference to the metabolism of ammonia.与人体埃克瘘管相关的发作性木僵，特别涉及氨的代谢。
J Clin Invest. 1954 Jan;33(1):1-9. doi: 10.1172/JCI102862.
6
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients.伴有碱性氨基酸转运缺陷的家族性蛋白质不耐受。对10例患者的分析。
Acta Paediatr Scand. 1967 Nov;56(6):617-30. doi: 10.1111/j.1651-2227.1967.tb15988.x.
7
Arginosuccine aciduria.精氨琥珀酸尿症
Am J Dis Child. 1967 Jan;113(1):162-5.
8
Treatment of hyperammonemia.
Am J Dis Child. 1967 Jan;113(1):142-5. doi: 10.1001/archpedi.1967.02090160192031.
9
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.
10
Fructosaemia. Observations on seven cases.果糖血症。七例观察报告。
Am J Med. 1968 Dec;45(6):826-38. doi: 10.1016/0002-9343(68)90181-2.
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