与α-甲基-β-羟基丁酸和α-甲基乙酰乙酸尿症相关的L-异亮氨酸代谢缺陷：体内和体外定量研究 - Suppr

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超能文献

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

作者信息

Gompertz D, Saudubray J M, Charpentier C, Bartlett K, Goodey P A, Draffan G H

出版信息

Clin Chim Acta. 1974 Dec 17;57(3):269-81. doi: 10.1016/0009-8981(74)90407-0.

DOI:10.1016/0009-8981(74)90407-0

PMID:4434646

Abstract

摘要

相似文献

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.与α-甲基-β-羟基丁酸和α-甲基乙酰乙酸尿症相关的L-异亮氨酸代谢缺陷：体内和体外定量研究

Clin Chim Acta. 1974 Dec 17;57(3):269-81. doi: 10.1016/0009-8981(74)90407-0.

Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".β-酮硫解酶缺乏症作为“酮症高甘氨酸血症综合征”的一个病因

Pediatrics. 1974 Feb;53(2):221-5.

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.2-甲基乙酰乙酰辅酶A的合成、表征及其在2-甲基乙酰乙酸尿症和2-甲基-3-羟基丁酸尿症缺陷位点鉴定中的应用。

Clin Chim Acta. 1983 Mar 14;128(2-3):291-305. doi: 10.1016/0009-8981(83)90329-7.

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.一种异亮氨酸分解代谢的遗传性疾病，导致α-甲基乙酰乙酸和α-甲基-β-羟基丁酸积累，并伴有间歇性代谢性酸中毒。

Pediatr Res. 1973 Mar;7(3):149-60. doi: 10.1203/00006450-197303000-00007.

Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.一名丙酰辅酶A羧化酶缺乏症患者异亮氨酸的异常代谢产物

Biomed Mass Spectrom. 1978 Mar;5(3):198-207. doi: 10.1002/bms.1200050307.

A "new" disorder of isoleucine catabolism.异亮氨酸分解代谢的一种“新”紊乱症。

Lancet. 1971 Dec 11;2(7737):1289-90. doi: 10.1016/s0140-6736(71)90605-2.

A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.

Acta Paediatr Scand. 1979 Jan;68(1):123-8. doi: 10.1111/j.1651-2227.1979.tb04972.x.

Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12.维生素B12依赖型甲基丙二酸尿症：氨基酸毒性、长链酮尿症及维生素B12的保护作用

Pediatrics. 1970 Oct;46(4):497-507.

Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

J Inherit Metab Dis. 1991;14(1):63-74. doi: 10.1007/BF01804391.

2-Ethylhydracrylic acid: a newly described urinary organic acid.2-乙基氢丙烯酸：一种新描述的尿有机酸。

Clin Chim Acta. 1974 Sep 16;55(2):199-204. doi: 10.1016/0009-8981(74)90295-2.

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Int J Endocrinol Metab. 2014 Apr 1;12(2):e10960. doi: 10.5812/ijem.10960. eCollection 2014 Apr.

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.线粒体2-甲基乙酰乙酰辅酶A硫解酶缺乏症：异亮氨酸和酮体代谢的先天性缺陷。

J Inherit Metab Dis. 1993;16(1):46-54. doi: 10.1007/BF00711314.

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.通过成纤维细胞体外酶学检测确诊的一个家族中的β-酮硫解酶缺乏症

Eur J Pediatr. 1982 Sep;139(1):39-42. doi: 10.1007/BF00442077.

An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.气相色谱-质谱联用技术与遗传性有机酸血症简介

Am J Hum Genet. 1980 Nov;32(6):781-92.

3-Ketothiolase deficiency.3-酮硫解酶缺乏症

Eur J Pediatr. 1986 Apr;144(6):586-9. doi: 10.1007/BF00496042.

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.一名患有3-酮硫解酶缺乏症男孩的培养成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷。

J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388.

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.编码人线粒体乙酰乙酰辅酶A硫解酶的互补DNA的分子克隆与序列分析以及对3-酮硫解酶缺乏症患者培养成纤维细胞中变异酶的研究。

J Clin Invest. 1990 Dec;86(6):2086-92. doi: 10.1172/JCI114946.

Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

J Inherit Metab Dis. 1991;14(1):63-74. doi: 10.1007/BF01804391.

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.

J Inherit Metab Dis. 1992;15(3):359-62. doi: 10.1007/BF02435976.

Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.一种新的产生R系列代谢产物的哺乳动物异亮氨酸分解代谢途径的证明。

Biochem J. 1976 Dec 15;160(3):417-26. doi: 10.1042/bj1600417a.

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