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Updated: Jul 8, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

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科罗拉多州对非常长链乙基-CoA脱酶缺乏症的新生儿查后续:致力于制定标准化协议

M M Crenshaw1, O M D'Annibale2, A Schechter3

  • 1University of Colorado School of Medicine, Department of Pediatrics, Section of Genetics and Metabolism, 13123 E. 16th Ave. B065, Aurora, CO 80045, USA.

Molecular genetics and metabolism
|April 11, 2025
PubMed
概括

针对非常长链乙-甲酸脱酶缺乏症 (VLCADD) 的新生儿查仍然具有挑战性. 结合分子测试和乙卡尼丁配置文件的新诊断算法显示了对婴儿分类的高度一致性.

关键词:
新生儿查 新生儿查非常长链的乙-coA脱酶缺乏.

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