CLSI NBS07 : 1ED 2017
Superseded
A superseded Standard is one, which is fully replaced by another Standard, which is a new edition of the same Standard.
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NEWBORN BLOOD SPOT SCREENING FOR POMPE DISEASE BY LYSOSOMAL ACID A-GLUCOSIDASE ACTIVITY ASSAYS
08-09-2022
25-08-2018
Abstract
Committee Membership
Foreword
Chapter 1 - Introduction
Chapter 2 - Biological and Clinical Features of Pompe Disease
Chapter 3 - Overview of Acid alpha-Glucosidase Activity
Assay to Detect Pompe Disease
Chapter 4 - Implementing Acid alpha-Glucosidase Activity
Assays
Chapter 5 - Follow-up Activities, Communication, and Diagnostic
Testing
Chapter 6 - Conclusion
Chapter 7 - Supplemental Information
References
Additional Resources
Appendix A - Ultra-High-Performance Liquid Chromatography-Tandem
Mass Spectrometry Assay for Lysosomal Acid
alpha-Glucosidase Activity Measurement
Appendix B - Proficiency Testing Results on Dried Blood Spots
Simulating Typical Newborns and Newborns With
Pompe Disease
Appendix C - Examples of Newborn Dried Blood Spot Screening
Algorithms for Pompe Disease
Appendix D - Pompe Disease-Specific Common Data Elements
The Quality Management System Approach
Related CLSI Reference Materials
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