Data in Brief (Sep 2016)

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

  • 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

Journal volume & issue
Vol. 8
pp. 915 – 924

Abstract

Read online

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.