CLSI NBS07-Ed1

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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

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