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六种溶酶体贮积症新生儿筛查的数据集及标准操作程序:采用串联质谱法

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.

作者信息

Elliott Susan, Buroker Norman, Cournoyer Jason J, Potier Anna M, Trometer Joseph D, Elbin Carole, Schermer Mack J, Kantola Jaana, Boyce Aaron, Turecek Frantisek, Gelb Michael H, Scott C Ronald

机构信息

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

PerkinElmer, Waltham, MA 02451, USA.

出版信息

Data Brief. 2016 Jul 5;8:915-24. doi: 10.1016/j.dib.2016.06.052. eCollection 2016 Sep.

Abstract

In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes.

摘要

在本数据文章中,我们提供了一份详细的标准操作程序,用于对6种溶酶体酶进行串联质谱多重分析,以筛查溶酶体贮积病,包括黏多糖贮积症I型、庞贝氏病、法布里病、尼曼-皮克病A/B型、戈谢病和克拉伯病(Elliott等人,2016年)[1]。我们还提供了从随机新生儿干血斑打孔样本中通常观察到的产物和内标离子的质谱峰面积,并给出了所有6种酶每日平均活性的日变化情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76a6/4961295/e67ba111b403/gr1.jpg

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