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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Data Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961295/
https://www.ncbi.nlm.nih.gov/pubmed/27508243
http://dx.doi.org/10.1016/j.dib.2016.06.052
Descripción
Sumario: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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