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

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.

SUBMITTER: Elliott S 

PROVIDER: S-EPMC4961295 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature