Synthesis of the Endogenous Non-Reducing End Heparan Sulfate Disaccharides for Newborn Screening and Diagnosis of Mucopolysaccharidosis types I and II
There is ongoing newborn screening (NBS) for mucopolysaccharidoses types I and II (MPS I and MPS II) because initiation of treatment early in life leads to better clinical outcomes. NBS starts with measurement of the relevant enzymatic activities in dried blood spots (DBS) on NBS cards. A second-tier test is carried ou...