多种酰基辅酶A脱氢酶缺乏症（戊二酸尿症II型和乙基丙二酸 - 己二酸尿症）中的电子传递黄素蛋白缺乏症。 - Suppr

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Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.

作者信息

Rhead W J, Amendt B A

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:99-100. doi: 10.1007/978-94-009-5612-4_24.

DOI:10.1007/978-94-009-5612-4_24

PMID:6434879

Abstract

摘要

相似文献

Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.多种酰基辅酶A脱氢酶缺乏症（戊二酸尿症II型和乙基丙二酸 - 己二酸尿症）中的电子传递黄素蛋白缺乏症。

J Inherit Metab Dis. 1984;7 Suppl 2:99-100. doi: 10.1007/978-94-009-5612-4_24.

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.多种酰基辅酶A脱氢酶缺乏症，即II型戊二酸尿症和乙基丙二酸-己二酸尿症。成纤维细胞中的线粒体脂肪酸氧化、酰基辅酶A脱氢酶及电子传递黄素蛋白活性。

J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.婴儿猝死综合征与多种酰基辅酶A脱氢酶缺乏症、乙基丙二酸-己二酸尿症或全身性肉碱缺乏症。

J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.乙基丙二酸-己二酸尿症。体内和体外研究表明多种酰基辅酶A脱氢酶活性缺乏。

J Clin Invest. 1979 Dec;64(6):1580-9. doi: 10.1172/JCI109619.

Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).补充左旋肉碱对一名轻度多种酰基辅酶A脱氢酶缺乏症（乙基丙二酸 - 己二酸尿症）患者可能产生的有害影响。

J Inherit Metab Dis. 1991;14(5):691-7. doi: 10.1007/BF01799937.

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.II型戊二酸尿症：对一名产前诊断患儿的生化检查与治疗

J Inherit Metab Dis. 1984;7(2):57-61. doi: 10.1007/BF01805802.

Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.

Am J Med Genet. 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326.

Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.乙基丙二酸/己二酸尿症：口服中链甘油三酯、肉碱和甘氨酸对有机酸、酰基肉碱和酰基甘氨酸尿排泄的影响。

Pediatr Res. 1991 Sep;30(3):216-21. doi: 10.1203/00006450-199109000-00002.

Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.II型戊二酸尿症：与电子传递黄素蛋白或其脱氢酶相关缺陷的证据。

Pediatr Res. 1984 Jul;18(7):663-7. doi: 10.1203/00006450-198407000-00020.

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.电子传递黄素蛋白在无细胞体系和培养的人成纤维细胞中的生物合成。α亚基合成缺陷是II型戊二酸尿症的原发性病变。

J Clin Invest. 1986 Oct;78(4):997-1002. doi: 10.1172/JCI112691.

引用本文的文献

J Clin Invest. 1986 Oct;78(4):997-1002. doi: 10.1172/JCI112691.

J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.短链酰基辅酶A脱氢酶缺乏症。两名患者的临床和生化研究。

J Clin Invest. 1987 May;79(5):1303-9. doi: 10.1172/JCI112953.

The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。

J Inherit Metab Dis. 1987;10 Suppl 1:159-200. doi: 10.1007/BF01812855.

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.戊二酸血症II型成纤维细胞中电子传递黄素蛋白或电子传递黄素蛋白：泛醌氧化还原酶的缺乏

Proc Natl Acad Sci U S A. 1985 Jul;82(13):4517-20. doi: 10.1073/pnas.82.13.4517.

Primary lipid cardiomyopathy.原发性脂质心肌病

Virchows Arch A Pathol Anat Histopathol. 1990;416(5):453-9. doi: 10.1007/BF01605153.

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