Title |
Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry
|
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Published in |
Data in Brief, July 2016
|
DOI | 10.1016/j.dib.2016.06.052 |
Pubmed ID | |
Authors |
Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott |
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. |
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United States | 1 | 100% |
Demographic breakdown
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
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Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 4 | 15% |
Student > Ph. D. Student | 4 | 15% |
Professor > Associate Professor | 3 | 11% |
Student > Master | 3 | 11% |
Other | 3 | 11% |
Other | 5 | 19% |
Unknown | 5 | 19% |
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Social Sciences | 1 | 4% |
Other | 2 | 7% |
Unknown | 5 | 19% |