三名3-甲基戊二酰辅酶A水合酶缺乏症患者的临床表现各异。 - Suppr

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超能文献

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

作者信息

Gibson K M, Wappner R S, Jooste S, Erasmus E, Mienie L J, Gerlo E, Desprechins B, De Meirleir L

机构信息

Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.

出版信息

J Inherit Metab Dis. 1998 Aug;21(6):631-8. doi: 10.1023/a:1005476315892.

DOI:10.1023/a:1005476315892

PMID:9762598

Abstract

摘要

相似文献

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.三名3-甲基戊二酰辅酶A水合酶缺乏症患者的临床表现各异。

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本文引用的文献

3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.

J Inherit Metab Dis. 1995;18(5):645-6. doi: 10.1007/BF02436015.

Multiple syndromes of 3-methylglutaconic aciduria.3-甲基戊二酸尿症的多种综合征

Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. doi: 10.1016/0887-8994(93)90046-f.

The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria.在3-甲基戊二酸尿症中对3-甲基戊二酰肉碱和一种新的二羧酸共轭物——3-甲基戊烯二酰肉碱的检测。

Clin Chim Acta. 1994 Oct 14;230(1):1-8. doi: 10.1016/0009-8981(94)90083-3.

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810.

Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.两兄弟患遗传性3-甲基戊二酸尿症——亮氨酸代谢的又一缺陷

J Pediatr. 1982 Oct;101(4):551-4. doi: 10.1016/s0022-3476(82)80698-7.

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.两名患有3-甲基戊二酸尿症的同胞中3-甲基戊二酰辅酶A水合酶缺乏症

J Clin Invest. 1986 Apr;77(4):1148-52. doi: 10.1172/JCI112415.

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.3-甲基戊二酰辅酶A水合酶、3-甲基巴豆酰辅酶A羧化酶和3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：一种有助于其检测的偶联酶测定法。

Clin Chim Acta. 1989 Sep 15;184(1):57-64. doi: 10.1016/0009-8981(89)90256-8.

3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

J Inherit Metab Dis. 1992;15(3):363-6. doi: 10.1007/BF02435977.

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