A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

Karen A. Sanders,Dimitar K. Gavrilov,Devin Oglesbee,Kimiyo M. Raymond,Silvia Tortorelli,John J. Hopwood,Fred Lorey,Ramanath Majumdar,Charles A. Kroll,Amber M. McDonald,Jean M. Lacey,Coleman T. Turgeon,Justin N. Tucker,Hao Tang,Robert Currier,Grazia Isaya,Piero Rinaldo,Dietrich Matern

International Journal of Neonatal Screening（2020）

Cited 24|Views63

Key words

newborn screening,Fabry disease,Gaucher disease,mucopolysaccharidosis type I,Pompe disease,tandem mass spectrometry,immunoassay,microfluidics,bioinformatics,post-analytical interpretation

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