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CLSI 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.

This reaffirmed document has been reviewed and confirmed as suitable to remain published without revision to content, as of June 2022. The document’s next scheduled review is generally five years after the reaffirmation date.

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Details

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

Date of Publication: March 30, 2017

Order Code PDF: CLSI NBS07Ed1E
ISBN Number: 1-56238-815-0

Order Code Print: CLSI NBS07Ed1
ISBN Number: 1-56238-814-2

Edition: First

Pages: 70

CLSI NBS07 Abstract

NBS07-Ed1 | Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid a-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. Co-Chairholders: Joseph Orsini, PhD New York State Department of Health C. Ronald Scott, MD University of Washington Medical Center Date of Publication: March 30, 2017 ISBN Number: 1-56238-814-2 Edition: First Edition Pages: 70 Preview Sample Pages Nonmember Price: $140.00 Membership discount will be applied at checkout.