Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.
Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.
复制标题
用于六种溶酶体储存疾病的新生儿筛查的数据集和标准操作程序：由串联质谱法。
DOI：
10.1016/j.dib.2016.06.052
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发表时间：
2016-09
期刊：
影响因子：
1.2
通讯作者：
Scott CR
中科院分区：
文献类型：
--
作者：
Elliott S;Buroker N;Cournoyer JJ;Potier AM;Trometer JD;Elbin C;Schermer MJ;Kantola J;Boyce A;Turecek F;Gelb MH;Scott CR
在这篇数据文章中，我们提供了一个详细的标准操作程序，用于进行串联质谱，6种溶酶体酶的多重测定，用于新生儿筛查溶酶体积贮病粘多糖病i， Pompe, Fabry, Niemann-Pick-A/B， Gaucher和Krabbe， （Elliott等，2016）[1]。我们还提供了产品和内部标准离子的质谱峰面积，通常用随机新生儿的干血斑punch观察到，我们提供了所有6种酶的日平均活性的日变化。
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.