Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

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作者信息

Jaeken J, Devlieger H, Bachmann C, Van Aerde J, Corbeel L, Eggermont E

出版信息

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

DOI:10.1007/BF00442085

PMID:7173263

Abstract

摘要

相似文献

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

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

[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].致死性新生儿氨甲酰磷酸合成酶缺乏症（作者译）

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Siblings with carbamyl phosphate synthetase I deficiency.患有氨甲酰磷酸合成酶I缺乏症的兄弟姐妹。

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A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.一种伴有L-鸟氨酸：2-酮戊二酸氨基转移酶中等活性的氨甲酰磷酸合成酶缺乏致死性新生儿变异型。

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Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.两名患有氨甲酰磷酸合成酶I缺乏症的姐妹的认知功能。

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Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia.先天性高氨血症一例中氨甲酰磷酸合成酶-I的动力学异常

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Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.氨甲酰磷酸合成酶I缺乏，未检测到mRNA活性。

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Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.新生儿高氨血症伴肝脏氨甲酰磷酸合成酶活性完全缺乏。

Arch Dis Child. 1978 Mar;53(3):230-4. doi: 10.1136/adc.53.3.230.

Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.通过胎儿肝脏活检对氨甲酰磷酸合成酶缺乏症进行产前诊断。

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本文引用的文献

N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.N-乙酰谷氨酸合成酶缺乏症：一种氨解毒障碍疾病。

N Engl J Med. 1981 Feb 26;304(9):543. doi: 10.1056/NEJM198102263040918.

Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.

J Pediatr. 1980 Dec;97(6):893-900. doi: 10.1016/s0022-3476(80)80416-1.

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.乳清酸排泄在尿素循环遗传性疾病及有机酸尿症所致高氨血症中的诊断价值。

Eur J Pediatr. 1980 Aug;134(2):109-13. doi: 10.1007/BF01846026.

Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.人类线粒体氨甲酰磷酸合成酶缺乏症的常染色体隐性遗传。

Am J Hum Genet. 1981 May;33(3):345-53.

Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency.

Am J Dis Child. 1981 May;135(5):437-42.

Angiographic evidence of low portal liver perfusion in transient neonatal hypermmonaemia.

Acta Paediatr Belg. 1980 Jul-Sep;33(3):163-9.

Urinary purines and pyrimidines in patients with hyperammonemia of various origins.

Clin Chim Acta. 1980 Jun 10;104(2):227-39. doi: 10.1016/0009-8981(80)90200-4.

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

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

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.

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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