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Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.

作者信息

Bennett M J, Allison F, Pollitt R J, Manning N J, Gray R G, Green A, Hale D E, Coates P M

出版信息

Lancet. 1987 Feb 21;1(8530):440-1. doi: 10.1016/s0140-6736(87)90135-8.

DOI:10.1016/s0140-6736(87)90135-8
PMID:2880228
Abstract
摘要

相似文献

1
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.婴儿猝死家庭中中链酰基辅酶A脱氢酶缺乏症的产前诊断
Lancet. 1987 Feb 21;1(8530):440-1. doi: 10.1016/s0140-6736(87)90135-8.
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The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.德国北部婴儿猝死受害者及健康新生儿中中链酰基辅酶A脱氢酶缺乏症G985等位基因的患病率。
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Medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症
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Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.
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Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.多种酰基辅酶A脱氢酶缺乏症的产前诊断：与甲胎蛋白升高和肾囊性改变的关联
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Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death.导致猝死的中链酰基辅酶A脱氢酶缺乏症的分子特征
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8
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The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.婴儿猝死综合征中编码中链酰基辅酶A脱氢酶的基因致病点突变的频率。
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The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.
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引用本文的文献

1
Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.
J Genet Couns. 1993 Mar;2(1):17-27. doi: 10.1007/BF00962557.
2
Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection.骨骼肌线粒体β-氧化。利用连续在线放射化学检测通过高效液相色谱法对[U-14C]十六烷酸氧化产物的研究。
Biochem J. 1988 Jul 15;253(2):541-7. doi: 10.1042/bj2530541.
3
Generalised dicarboxylic aciduria: a common finding in neonates.
J Inherit Metab Dis. 1989;12 Suppl 2:321-4. doi: 10.1007/BF03335411.
4
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.线粒体β-氧化紊乱：产前及产后早期诊断及其与瑞氏综合征和婴儿猝死的相关性
J Inherit Metab Dis. 1989;12 Suppl 1:215-30. doi: 10.1007/BF01799297.
5
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症新生儿期异常尿代谢物分析
J Inherit Metab Dis. 1990;13(5):707-15. doi: 10.1007/BF01799572.
6
A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.用[9,10-3H]棕榈酸和[9,10-3H]肉豆蔻酸检测完整培养成纤维细胞中脂肪酸氧化缺陷的比较
J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333.
7
Medium chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症
Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142.