Health-Related Quality of Life and Fatigue in Children with Pompe Disease.
Scheffers LE, Dulfer K, Lanser C, Mackenbach M, van der Ploeg AT, van den Hout JMP, van den Berg LE
Journal of pediatrics. Clinical practice, 2024 Dec
Abstract
Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and fatigue in children with Pompe disease.