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