Detection of urea cycle enzymopathies in childhood.
作者信息
Trauner D A, Self T W
出版信息
Arch Neurol. 1984 Jul;41(7):758-60. doi: 10.1001/archneur.1984.04050180080023.
Abstract
Inborn errors of ureagenesis must be considered in the differential diagnosis of recurrent vomiting and lethargy in childhood. Elevations of liver enzyme levels are often present during these episodes and may lead to an erroneous diagnosis of hepatic encephalopathy. We studied two cases of urea cycle defects.
摘要
相似文献
1
Detection of urea cycle enzymopathies in childhood.
Arch Neurol. 1984 Jul;41(7):758-60. doi: 10.1001/archneur.1984.04050180080023.
2
[Hyperammonemias of childhood. I. Enzymopathies of the urea cycle].[儿童高氨血症。I. 尿素循环的酶病]
Pediatr Pol. 1987 Oct;62(10):727-32.
3
Congenital hyperammonemic syndromes.先天性高氨血症综合征
Clin Perinatol. 1976 Mar;3(1):3-14.
4
Urea cycle enzymopathies.尿素循环酶病
Semin Liver Dis. 1982 Nov;2(4):329-39. doi: 10.1055/s-2008-1040719.
5
Disorders of the urea cycle.尿素循环障碍
Hosp Pract (Off Ed). 1985 Oct 15;20(10):65-72. doi: 10.1080/21548331.1985.11703159.
6
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Rev Physiol Biochem Pharmacol. 1987;108:21-68. doi: 10.1007/BFb0034071.
7
[Urea cycle disorders].[尿素循环障碍]
Ryoikibetsu Shokogun Shirizu. 1995(8):367-9.
8
Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders.
J Pediatr. 1991 Jun;118(6):914-7. doi: 10.1016/s0022-3476(05)82208-5.
9
Quantitative analysis of urinary pyroglutamic acid in patients with hyperammonemia.
Clin Chim Acta. 1991 Mar 29;197(3):249-55. doi: 10.1016/0009-8981(91)90145-3.
10
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.尿素循环酶病中的血浆α-酮戊二酸及其作为高氨血症昏迷先兆的作用。
Pediatr Res. 1980 Dec;14(12):1316-9. doi: 10.1203/00006450-198012000-00008.
Zotero 插件