[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency].
作者信息
Salle B, Levin B, Longin B, Richard P, Andre M, Gauthier J
出版信息
Arch Fr Pediatr. 1972 May;29(5):493-504.
PMID:4655647
Abstract
摘要
相似文献
1
[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency].
Arch Fr Pediatr. 1972 May;29(5):493-504.
2
[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.
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[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.
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Lethal neonatal deficiency of carbamyl phosphate synthetase.氨甲酰磷酸合成酶致死性新生儿缺乏症
N Engl J Med. 1974 Feb 21;290(8):430-3. doi: 10.1056/NEJM197402212900804.
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Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.遗传性高氨血症患者的血氨水平及氮清除氨基酸水平
Mol Genet Metab. 1999 Jan;66(1):10-5. doi: 10.1006/mgme.1998.2783.
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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.
8
Hyperammonemia: a deficiency of liver ornithine transcarbamylase.高氨血症：肝脏鸟氨酸转氨甲酰酶缺乏。
Paediatr Univ Tokyo. 1970 Dec;18:167-73.
9
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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.
引用本文的文献
1
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.
2
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.
3
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.尝试对一名因鸟氨酸转移酶缺乏导致高氨血症的男孩进行饮食治疗。
Eur J Pediatr. 1978 Jul 19;128(4):261-72. doi: 10.1007/BF00445611.
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