Ontology highlight
ABSTRACT:
SUBMITTER: Duffey TA
PROVIDER: S-EPMC2980560 | biostudies-other | 2010 Nov
REPOSITORIES: biostudies-other
Duffey Trisha A TA Sadilek Martin M Scott C Ronald CR Turecek Frantisek F Gelb Michael H MH
Analytical chemistry 20101020 22
We report a new assay of N-acetylgalactosamine-4-sulfatase (aryl sulfatase B) activity in dried blood spots (DBS) for the early detection of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in newborn screening. The assay uses a synthetic substrate consisting of N-acetylgalactosamine-4-sulfate moiety glycosidically linked to a hydrophobic residue and furnished with a tert-butyloxycarbamido group as a marker for specific mass spectrometric fragmentation. Incubation with aryl sulfatase B present ...[more]