Open AccessPlain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease
Author(s) -
Arnold Reuser,
Priya S. Kishnani
Publication year - 2022
Language(s) - English
DOI - 10.2217/frd-2022-0009
Subject(s) - disease , glycogen storage disease type ii , gene , gene mutation , medicine , heart disease , genetics , mutation , biology , enzyme replacement therapy