先天性高氨血症。与高甘氨酸血症及氨甲酰磷酸合成酶水平降低相关。 - Suppr

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Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.

作者信息

Freeman J M, Nicholson J F, Schimke R T, Rowland L P, Carter S

出版信息

Arch Neurol. 1970 Nov;23(5):430-7. doi: 10.1001/archneur.1970.00480290050006.

DOI:10.1001/archneur.1970.00480290050006

PMID:5471650

Abstract

摘要

相似文献

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.先天性高氨血症。与高甘氨酸血症及氨甲酰磷酸合成酶水平降低相关。

Arch Neurol. 1970 Nov;23(5):430-7. doi: 10.1001/archneur.1970.00480290050006.

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

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

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.

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.

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.

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.

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.

Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.由于异亮氨酸代谢缺陷导致的高甘氨酸血症伴酮症：初步报告。

Pediatrics. 1972 Dec;50(6):890-5.

Hyperglycinemia: a defect in glycine cleavage reaction.

Tohoku J Exp Med. 1969 Jul;98(3):289-96. doi: 10.1620/tjem.98.289.

[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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Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.新生儿期发病的氨甲酰磷酸合成酶1基因新型致病变异（c.2947C>T）

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Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.循环甘氨酸水平的遗传决定因素与冠心病风险。

J Am Heart Assoc. 2019 May 21;8(10):e011922. doi: 10.1161/JAHA.119.011922.

Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.全基因组关联研究和靶向代谢组学确定了CPS1与冠状动脉疾病的性别特异性关联。

Nat Commun. 2016 Jan 29;7:10558. doi: 10.1038/ncomms10558.

Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.使用十二指肠活检样本检测氨甲酰磷酸合成酶1缺乏症。

Arch Dis Child. 1980 Apr;55(4):292-5. doi: 10.1136/adc.55.4.292.

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

Eur J Pediatr. 1982 Sep;139(1):72-5. doi: 10.1007/BF00442085.

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.

Phenotypic diversity of human diseases resulting from allelic series.由等位基因系列导致的人类疾病的表型多样性。

Am J Hum Genet. 1973 Jul;25(4):446-56.

Neuropathological observations in a patient with carbamylphosphate-synthetase deficiency and in two sibs.一名患有氨甲酰磷酸合成酶缺乏症的患者及其两名同胞的神经病理学观察。

Arch Dis Child. 1972 Feb;47(251):47-51. doi: 10.1136/adc.47.251.47.

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.

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