Sudden infant death and multiple acyl-CoA dehydrogenation disorders.

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作者信息

Parini R, Vegni C, Martini J, Romeo A, Garavaglia B

出版信息

Eur J Pediatr. 1995 May;154(5):421-2. doi: 10.1007/BF02072123.

DOI:10.1007/BF02072123

PMID:7641783

Abstract

摘要

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本文引用的文献

Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death.线粒体脂肪酸氧化缺陷：临床表现及其在婴儿猝死中的作用

Padiatr Padol. 1993;28(1):13-7.

Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

Hum Pathol. 1994 Aug;25(8):735-41. doi: 10.1016/0046-8177(94)90240-2.

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.三名II型戊二酸血症患者中电子传递黄素蛋白β亚基编码基因的突变与多态性

Hum Mol Genet. 1994 Mar;3(3):429-35. doi: 10.1093/hmg/3.3.429.

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.在死于婴儿猝死或类瑞氏综合征的儿童无症状同胞中识别中链酰基辅酶A脱氢酶缺乏症。

J Pediatr. 1986 Jan;108(1):13-8. doi: 10.1016/s0022-3476(86)80762-4.

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

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.多系统甘油三酯贮积病是由于细胞内合成的甘油三酯降解存在特定缺陷所致。

Neurology. 1988 Jul;38(7):1107-10. doi: 10.1212/wnl.38.7.1107.

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