孤立性（生物素抵抗性）3-甲基巴豆酰辅酶A羧化酶缺乏症：4名无病理表现的同胞。 - Suppr

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超能文献

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

作者信息

Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen O P, Suormala T, Baumgartner R, Wendel U

机构信息

Department of Pediatrics, University Hospital of Nijmegen, The Netherlands.

出版信息

J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014.

DOI:10.1007/BF02436014

PMID:8598650

Abstract

摘要

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本文引用的文献

Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.脑脊液高分辨率1H-NMR的标准化方法。

Clin Chem. 1995 May;41(5):744-51.

Cerebrospinal fluid organic acids in biotinidase deficiency.

J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668.

Intercurrent illness in inborn errors of intermediary metabolism.中间代谢先天性缺陷中的并发疾病。

Arch Dis Child. 1992 Nov;67(11):1387-91. doi: 10.1136/adc.67.11.1387.

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