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NBS07

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

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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Publication Details

Chairholder: Joseph Orsini, PhD and C. Ronald Scott, MD

Date of Publication: March 30, 2017

ISBN Number: 1-56238-814-2

Order Code PDF: NBS07Ed1E

Order Code Print: NBS07Ed1

Edition: First

Pages: 70