Ontology highlight
ABSTRACT:
SUBMITTER: Singh R
PROVIDER: S-EPMC7277946 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Singh Rajendra R Chopra Shaileja S Graham Carrie C Langer Melissa M Ng Rainer R Ullal Anirudh J AJ Pamula Vamsee K VK
Diagnostics (Basel, Switzerland) 20200511 5
Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficiency in the cognate enzyme. Existing tests for MPSs utilize either fluorescence or mass spectrometry detection methods to measure biomarkers of disease (e.g., enzyme function or glycosaminoglycans) using either urine or dried blood spot (DBS) samples. ...[more]