Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl.
作者信息
Granot E, Matoth I, Lotan C, Shvil Y, Lijovetzky G, Yatziv S
出版信息
Isr J Med Sci. 1986 Jun;22(6):463-5.
PMID:3759432
Abstract
摘要
相似文献
1
Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl.
Isr J Med Sci. 1986 Jun;22(6):463-5.
2
[Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].[关于部分氨甲酰磷酸合成酶缺乏症临床病例的评论]
Minerva Pediatr. 1989 Feb;41(2):105-8.
3
Organic acids and Reye's syndrome.
Lancet. 1979 May 26;1(8126):1147. doi: 10.1016/s0140-6736(79)91825-7.
4
Recurrent Reye's syndrome without liver lipid deposition.
Hosp Pract (Hosp Ed). 1981 Feb;16(2):45-51. doi: 10.1080/21548331.1981.11946724.
5
[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].[鸟氨酸转氨甲酰酶先天性缺乏症。两例临床病例描述]
Minerva Pediatr. 1983 Mar 15;35(5):219-24.
6
Reye's syndrome and aspirin: epidemiological associations and inborn errors of metabolism.
Lancet. 1987 Aug 22;2(8556):429-31.
7
Masking by enzyme inhibitor of raised serum glutamate dehydrogenase activity in Reye's syndrome.
Lancet. 1983 Jul 2;2(8340):4-7. doi: 10.1016/s0140-6736(83)90002-8.
8
Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome.线粒体尿素循环酶缺乏症中的肝脏超微结构及其与瑞氏综合征的比较。
Hepatology. 1984 May-Jun;4(3):404-7. doi: 10.1002/hep.1840040308.
9
beta-Hydroxy-beta-methyglutaricaciduria presenting as Reye's syndrome.表现为瑞氏综合征的β-羟基-β-甲基戊二酸尿症
Lancet. 1979 Mar 24;1(8117):680. doi: 10.1016/s0140-6736(79)91137-1.
10
[Carbamyl phosphate synthetase I deficiency].[氨甲酰磷酸合成酶I缺乏症]
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):497-9.
引用本文的文献
1
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）
Front Neurosci. 2022 Oct 21;16:1025572. doi: 10.3389/fnins.2022.1025572. eCollection 2022.
Zotero 插件