Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Philip J HennisElaine MurphyRick I MeijerRobin H LachmannRadha RamachandranClaire BordoliGurinder RayatDavid J TomlinsonPublished in: Orphanet journal of rare diseases (2022)
peak and knee extension strength are lower in individuals with GSD IIIa than predicted based on their demographic data. Patients with higher physical capacity have superior muscle size and structure characteristics and higher health-related quality of life, than those with lower physical capacity. This study provides normative values of these important markers of physical capacity.