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This report discusses the detection of Pompe disease (PD) by population-based newborn screening using dried blood spot specimens to measure acid α-glucosidase enzyme activity. Classic infantile-onset PD is a lethal disorder that is not evident at birth, and therapy effectiveness is improved by presymptomatic detection.

Product Details

Published:

03/01/2017

ISBN(s):

1562388142

Number of Pages:

70

File Size:

1 file , 2.9 MB