NBS07

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

Classic infantile-onset Pompe disease is a lethal disorder not evident at birth. Outcomes are improved by presymptomatic detection. Learn about measuring acid α-glucosidase enzyme activity to detect Pompe disease.

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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