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.
Member Price: as low as $42.00Nonmember Price: $140.00
Chairholder: Joseph Orsini, PhD and C. Ronald Scott, MD
Date of Publication: March 30, 2017
ISBN Number: 1-56238-814-2
Order Code Print: NBS07Ed1