Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

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作者信息

Pollitt R J, Manning N J, Olpin S E, Young I D

机构信息

University Department of Paediatrics, Children's Hospital, Sheffield, UK.

出版信息

J Inherit Metab Dis. 1994;17(3):279-82. doi: 10.1007/BF00711807.

DOI:10.1007/BF00711807

PMID:7807933

Abstract

摘要

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Disorders of mitochondrial long-chain fatty acid oxidation.线粒体长链脂肪酸氧化紊乱

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Clin Chim Acta. 1982 Nov 24;126(1):53-67. doi: 10.1016/0009-8981(82)90361-8.

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.II型戊二酸尿症：对一名产前诊断患儿的生化检查与治疗

J Inherit Metab Dis. 1984;7(2):57-61. doi: 10.1007/BF01805802.

Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的产前诊断

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The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。

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Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

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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

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