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Investigation of inborn errors of metabolism in unexpected infant deaths.

作者信息

Emery J L, Howat A J, Variend S, Vawter G F

机构信息

Wolfson Unit, Department of Paediatrics, University of Sheffield.

出版信息

Lancet. 1988 Jul 2;2(8601):29-31. doi: 10.1016/s0140-6736(88)92955-8.

DOI:10.1016/s0140-6736(88)92955-8
PMID:2898629
Abstract
摘要

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Investigation of inborn errors of metabolism in unexpected infant deaths.意外婴儿死亡中先天性代谢缺陷的调查。
Lancet. 1988 Jul 2;2(8601):29-31. doi: 10.1016/s0140-6736(88)92955-8.
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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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Fatty acid oxidation defects as causes of unexpected death in infancy.脂肪酸氧化缺陷作为婴儿意外死亡的原因
Prog Clin Biol Res. 1990;321:349-64.
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[Do defects in fatty acid oxidation cause sudden infant death?].脂肪酸氧化缺陷会导致婴儿猝死吗？
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Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS).婴儿猝死综合征（SIDS）中中链酰基辅酶A脱氢酶（MCAD）缺乏症的G-985突变频率。
Prog Clin Biol Res. 1992;375:495-8.
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Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.多种酰基辅酶A脱氢酶缺乏症：通过对一张12岁新生儿筛查卡片进行酰基肉碱分析来诊断
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Medium chain acyl-coenzyme A dehydrogenase deficiency.
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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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Sudden infant death and lysinuric protein intolerance.
Eur J Pediatr. 1996 Mar;155(3):256-7. doi: 10.1007/BF01953953.
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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。
Arch Dis Child. 1991 Nov;66(11):1315-7. doi: 10.1136/adc.66.11.1315.

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