Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by
mutations in the AGL gene coding for the glycogen debranching enzyme. Current therapy is
based on dietary adaptations but new preclinical therapies are emerging. The identification
of outcome measures which are sensitive to disease progression becomes critical to assess
the efficacy of new treatments in upcoming clinical trials. In order to prepare future
longitudinal studies or therapeutic trials with large cohorts, information about disease …