Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway?

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作者信息

Opdal S H, Vege A, Saugstad O D, Rognum T O

出版信息

Eur J Pediatr. 1995 Feb;154(2):166-7. doi: 10.1007/BF01991929.

DOI:10.1007/BF01991929

PMID:7720752

Abstract

摘要

相似文献

Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway?

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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。

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Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.婴儿猝死综合征中中链酰基辅酶A脱氢酶缺乏症G-985突变的发生率

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A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.中链酰基辅酶A脱氢酶的一种新型突变导致新生儿猝死。

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引用本文的文献

Gene variants predisposing to SIDS: current knowledge.导致婴儿猝死综合征的基因变异：当前认知

Forensic Sci Med Pathol. 2011 Mar;7(1):26-36. doi: 10.1007/s12024-010-9182-9. Epub 2010 Jul 11.

本文引用的文献

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome.中链酰基辅酶A脱氢酶缺乏症在婴儿猝死综合征中的患病率。

J Pediatr. 1993 May;122(5 Pt 1):715-8. doi: 10.1016/s0022-3476(06)80010-7.

Acta Paediatr. 1993 Jun-Jul;82(6-7):544-6. doi: 10.1111/j.1651-2227.1993.tb12749.x.

Sudden infant death and inherited disorders of fat oxidation.婴儿猝死与脂肪氧化遗传性疾病

Lancet. 1986 Nov 8;2(8515):1073-5.

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.

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.

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.婴儿猝死综合征中中链酰基辅酶A脱氢酶缺乏症G-985突变的发生率

Pediatr Res. 1992 Apr;31(4 Pt 1):305-7. doi: 10.1203/00006450-199204000-00001.

[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation].

Ugeskr Laeger. 1992 Feb 17;154(8):483-8.

Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.英国的中链酰基辅酶A脱氢酶缺乏症。

Prog Clin Biol Res. 1992;375:489-94.

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