1948750

CLSI NBS07-Ed1 (R2022)

Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid alpha-Glucosidase Activity Assays, 1st Edition, NBS07Ed1E

standard by Clinical and Laboratory Standards Institute , 03/01/2017

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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
Note:
This product is unavailable in Russia, Belarus