The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

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作者信息

Bennett M J, Gray R G, Isherwood D M, Murphy N, Pollitt R J

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:135-6. doi: 10.1007/BF01811496.

DOI:10.1007/BF01811496

PMID:3930866

Abstract

摘要

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本文引用的文献

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.与脂质贮积性肌病和继发性肉碱缺乏相关的短链酰基辅酶A脱氢酶缺乏症。

N Engl J Med. 1984 Nov 8;311(19):1232-6. doi: 10.1056/NEJM198411083111906.

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.

Riboflavin-responsive ethylmalonic-adipic aciduria.核黄素反应性乙基丙二酸-己二酸尿症

J Inherit Metab Dis. 1985;8(2):67-70. doi: 10.1007/BF01801667.

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.乙基丙二酸-己二酸尿症。体内和体外研究表明多种酰基辅酶A脱氢酶活性缺乏。

J Clin Invest. 1979 Dec;64(6):1580-9. doi: 10.1172/JCI109619.

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