Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100  000 Dried Blood Spots

To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assay 5 enzymatic activities in dried blood spots (DBS) for NBS of 5 lysosomal storage diseases (mucopolysaccharidosis [MPS]-II, MPS-IIIB, MPS-IVA, MPS-VI, and MPS-VII).

Source: The Journal of Pediatrics - November 11, 2019 Category: Pediatrics Authors: Clifford Ronald Scott, Susan Elliott, Xinying Hong, Jie-Yu Huang, Arun Babu Kumar, Fan Yi, Nagendar Pendem, Naveen Kumar Chennamaneni, Michael H. Gelb Tags: Original Articles Source Type: research