Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders
Journal
Clinical Therapeutics
Journal Volume
30
Journal Issue
SUPPL. 1
Date Issued
2008
Author(s)
SDGs
Other Subjects
glucan 1,4 alpha glucosidase; article; blood examination; cardiomyopathy; diagnostic accuracy; early diagnosis; enzyme activity; enzyme assay; enzyme replacement; Fabry disease; feasibility study; fluorometry; Gaucher disease; globoid cell leukodystrophy; glycogen storage disease type 2; human; lysosome storage disease; muscle hypotonia; newborn screening; sensitivity and specificity; tandem mass spectrometry
Type
journal article