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CLSI NBS07-2017

CLSI NBS07-2017

$48.10

Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid Alpha-Glucosidase Activity Assays

Published By Publication Date Number of Pages
CLSI 2017-03-01 70
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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 a-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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CLSI NBS07-2017
$48.10