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Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.

作者信息

Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates P M

出版信息

Lancet. 1990 Jun 30;335(8705):1589. doi: 10.1016/0140-6736(90)91413-5.

DOI:10.1016/0140-6736(90)91413-5
PMID:1972503
Abstract
摘要

相似文献

1
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症患者的分子病变
Lancet. 1990 Jun 30;335(8705):1589. doi: 10.1016/0140-6736(90)91413-5.
2
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.采用寡核苷酸连接分析法对中链酰基辅酶A脱氢酶缺乏症进行分子诊断。
Clin Chem. 1998 Jan;44(1):10-1.
3
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症患者常见突变的鉴定。
Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505. doi: 10.1016/0006-291x(90)91421-n.
4
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶缺乏症的分子基础：985A→G转变的研究与演变，以及中链酰基辅酶A脱氢酶基因内五种罕见突变类型的鉴定。
Prog Clin Biol Res. 1992;375:425-40.
5
Mutations in medium chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症中的突变。
Lancet. 1990 Sep 22;336(8717):748-9.
6
[Short-chain acyl-CoA dehydrogenase deficiency].[短链酰基辅酶A脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 2001(36):71-3.
7
Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.瑞典中链酰基辅酶A脱氢酶（MCAD）基因中985A>G突变的患病率。
Scand J Clin Lab Invest. 1999 Jul;59(4):289-91. doi: 10.1080/00365519950185652.
8
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.由于常见突变的杂合性以及一个导致中链酰基辅酶A脱氢酶（MCAD）mRNA水平低的等位基因而引起的MCAD缺乏症。
J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806.
9
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.导致中链酰基辅酶A脱氢酶缺乏症的最常见突变与该基因区域的一种特定单倍型密切相关。
Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161.
10
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.荷兰最常见的中链酰基辅酶A脱氢酶（MCAD）缺乏症突变（G985A）携带者的患病率。
Hum Genet. 1996 Jul;98(1):1-2. doi: 10.1007/s004390050149.

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Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.与短链烯酰辅酶A水合酶（ECHS1）缺乏相关的线粒体脂肪酸氧化障碍
Cells. 2018 May 23;7(6):46. doi: 10.3390/cells7060046.
2
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.221例经新生儿筛查诊断为中链酰基辅酶A脱氢酶缺乏症的新生儿：来自先天性代谢缺陷协作组的研究结果
Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.
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Metabolic cardiomyopathies.
代谢性心肌病
Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.
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Mammalian mitochondrial beta-oxidation.哺乳动物线粒体β-氧化
Biochem J. 1996 Dec 1;320 ( Pt 2)(Pt 2):345-57. doi: 10.1042/bj3200345.
5
The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population.
Eur J Pediatr. 1996 Mar;155(3):256. doi: 10.1007/BF01953952.
6
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.中链酰基辅酶A脱氢酶（MCAD）缺乏症：通过血液中酰基肉碱分析进行诊断。
Am J Hum Genet. 1993 May;52(5):958-66.
7
Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis. 1993;16(2):392-8. doi: 10.1007/BF00710286.
8
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.
9
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶基因第11外显子中的致病突变。
Am J Hum Genet. 1994 Jun;54(6):975-88.
10
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).中链酰基辅酶A脱氢酶（MCAD）基因中的一种罕见疾病相关突变改变了一个保守的精氨酸，此前已证明该精氨酸在短链酰基辅酶A脱氢酶（SCAD）中具有功能重要性。
Am J Hum Genet. 1993 Sep;53(3):730-9.