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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