极长链酰基辅酶A脱氢酶缺乏症的突变谱 - Suppr

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超能文献

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.

作者信息

Andresen B S, Vianey-Saban C, Bross P, Divry P, Roe C R, Nada M A, Knudsen I, Gregersen N

机构信息

Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.

出版信息

J Inherit Metab Dis. 1996;19(2):169-72. doi: 10.1007/BF01799421.

DOI:10.1007/BF01799421

PMID:8739957

Abstract

摘要

相似文献

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.极长链酰基辅酶A脱氢酶缺乏症的突变谱

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Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.对9例长链酰基辅酶A脱氢酶缺乏症患者培养的成纤维细胞中变异型长链酰基辅酶A脱氢酶的免疫化学特性分析。

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A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS.一种使用稳定同位素和气相色谱-质谱联用技术检测培养的皮肤成纤维细胞中长链酰基辅酶A脱氢酶的新型简易检测方法。

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Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts.猪肝线粒体电子传递黄素蛋白的纯化及其在人成纤维细胞中酰基辅酶A脱氢酶缺乏症诊断中的应用。

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Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.横纹肌溶解症作为极长链酰基辅酶A脱氢酶缺乏症的首发表现。

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DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.基于DNA的极长链酰基辅酶A脱氢酶缺乏症的产前诊断。

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.在极长链酰基辅酶A脱氢酶缺乏症中基因型与疾病表型的明确相关性。

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本文引用的文献

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.一种伴有线粒体极长链酰基辅酶A脱氢酶缺乏的新型疾病。

Biochem Biophys Res Commun. 1993 Mar 31;191(3):1369-72. doi: 10.1006/bbrc.1993.1368.

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.极长链酰基辅酶A脱氢酶缺乏症：成纤维细胞中线粒体脂肪酸氧化一种新的先天性代谢缺陷的鉴定。

Biochim Biophys Acta. 1993 Jan 22;1180(3):327-9. doi: 10.1016/0925-4439(93)90058-9.

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.猪肝线粒体中链酰基辅酶A脱氢酶在有底物和无底物情况下的晶体结构。

Proc Natl Acad Sci U S A. 1993 Aug 15;90(16):7523-7. doi: 10.1073/pnas.90.16.7523.

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.人超长链酰基辅酶A脱氢酶的纯化及其在7例患者中的缺陷特征

J Clin Invest. 1995 Jun;95(6):2465-73. doi: 10.1172/JCI117947.

Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.低血糖、肌张力减退和心肌病：长链酰基辅酶A脱氢酶缺乏症不断演变的临床症状

Pediatrics. 1991 Mar;87(3):328-33.

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.中链酰基辅酶A脱氢酶（MCAD）缺乏症的分子特征：MCAD基因中赖氨酸329突变为谷氨酸的鉴定，以及无活性突变酶蛋白在大肠杆菌中的表达。

Hum Genet. 1991 Apr;86(6):545-51. doi: 10.1007/BF00201539.

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