Ontology highlight
ABSTRACT:
SUBMITTER: Kumar AB
PROVIDER: S-EPMC6710107 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Molecular genetics and metabolism 20190610 3
Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much attention due to its sensitivity, high precision, and the capability to screen for an unprecedented number of diseases in a single assay. Herein we report the development of MS/MS-based enzyme assays for the diagnosis of α-mannosidosis and fucosidosis. These ...[more]