一例新的日本琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症病例。 - Suppr

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超能文献

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency.

作者信息

Sakazaki H, Hirayama K, Murakami S, Yonezawa S, Shintaku H, Sawada Y, Fukao T, Watanabe H, Orii T, Isshiki G

机构信息

Department of Pediatrics, Izumi Municipal Hospital, Osaka, Japan.

出版信息

J Inherit Metab Dis. 1995;18(3):323-5. doi: 10.1007/BF00710423.

DOI:10.1007/BF00710423

PMID:7474899

Abstract

摘要

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A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency.一例新的日本琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症病例。

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Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症的产前诊断

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Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.琥珀酰辅酶 A：3-氧代酸辅酶 A 转移酶缺乏症的杂合子携带者可能会发生严重的酮症酸中毒。

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本文引用的文献

Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。

J Biol Chem. 1951 Nov;193(1):265-75.

Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues.成年哺乳动物组织中参与乙酰乙酸利用的酶的活性。

Biochem J. 1971 Jan;121(1):41-7. doi: 10.1042/bj1210041.

Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症。婴儿期酮症酸中毒的一个病因。

J Clin Invest. 1972 Mar;51(3):493-8. doi: 10.1172/JCI106837.

Hyperketotic states due to inherited defects of ketolysis.

Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194.

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.

A new case of succinyl-CoA: acetoacetate transferase deficiency.

J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979.

A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples.一种对洛里方法的改良，用于简化膜和脂蛋白样品中的蛋白质测定。

Anal Biochem. 1978 Jun 15;87(1):206-10. doi: 10.1016/0003-2697(78)90586-9.

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