Add like
Add dislike
Add to saved papers

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Muscle & Nerve 2009 July
Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay for Pompe disease in 2006 after the FDA approved GAA enzyme replacement therapy in April of that year. The purpose of this study was to examine the experience of our clinical laboratory in using this assay. Over a 2-year period, we received samples for the DBS GAA assay from 891 patients referred for possible Pompe disease, of whom 111 (12.5%) patients across the disease spectrum who had results in the affected range. The majority of the patients were referred by neurologists and geneticists. When available, we correlated the results obtained through DBS GAA activity assay with the results from a second DBS, or a second tissue (cultured skin fibroblasts or muscle biopsy). In our experience, the DBS GAA activity assay provides a robust, rapid, and reliable first tier test for screening patients suspected of having Pompe disease.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app