Abstract
Pompe disease is a glycogen storage disorder caused by deficiency of acid α-glucosidase (GAA), which degrades lysosomal glycogen, leading to a wide spectrum of symptoms and variable rate of disease progression. In children, severe GAA deficiency results in cardiomyopathy, hypotonia, and respiratory insufficiency leading to death within the first year of life, whereas this disease is generally restricted to skeletal and respiratory muscles in adults with a slow disease progression over decades.1 Results of clinical trials with biweekly infusions of recombinant human GAA …
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.