Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.

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作者信息

Rolland M O, Divry P, Zabot M T, Guibaud P, Gomez S, Lachaux A, Loras I

机构信息

Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

出版信息

J Inherit Metab Dis. 1991;14(5):838-9. doi: 10.1007/BF01799962.

DOI:10.1007/BF01799962

PMID:1779635

Abstract

摘要

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Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.

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[Methylcrotonyl-CoA carboxylase deficiency].[甲基巴豆酰辅酶A羧化酶缺乏症]

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Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.尿有机酸的常规气相色谱/质谱分析。三年期间的结果。

Biomed Environ Mass Spectrom. 1987 Nov;14(11):663-8. doi: 10.1002/bms.1200141117.

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