CLSI NBS07-Ed1 (R2022)

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

Clinical and Laboratory Standards Institute, 03/01/2017

Publisher: CLSI

File Format: PDF

$90.00$180.00

Description

Published:01/03/2017

Pages:70

File Size:1 file , 2.9 MB

Note:This product is unavailable in Russia, Belarus

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.

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