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Sudden infant death and multiple acyl-CoA dehydrogenation disorders.

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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1
Sudden infant death and multiple acyl-CoA dehydrogenation disorders.
Eur J Pediatr. 1995 May;154(5):421-2. doi: 10.1007/BF02072123.
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One more thought on sudden infant death syndrome.
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4
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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。
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Inherited metabolic diseases in the sudden infant death syndrome.婴儿猝死综合征中的遗传性代谢疾病。
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Post-mortem recognition of inherited metabolic disorders from specific acylcarnitines in tissue in cases of sudden infant death.在婴儿猝死病例中,通过组织中特定酰基肉碱对遗传性代谢紊乱进行尸检诊断。
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Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome.以婴儿猝死综合征形式表现的中链脂肪酰基辅酶A脱氢酶缺乏症。
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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。
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2
Sudden infant death and lysinuric protein intolerance.
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本文引用的文献

1
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.
2
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.
3
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.
4
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.
5
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.
6
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.