Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans
Zackary M. Herbst, Xinying Hong, Martin Sadı́lek, Maria Fuller, Michael H. Gelb
Topics & Concepts
Newborn screeningSpotsDried bloodGlycosaminoglycanChemistryEnzymeEnzyme replacement therapyMultiplexingChromatographyComputer scienceBiochemistryMedicineInternal medicineTelecommunicationsDiseasePhysical chemistryLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusCarbohydrate Chemistry and Synthesis