Elizabeth Exall

Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research

Abstract Background Pompe disease is a rare, autosomal recessive, neuromuscular disorder caused by a deficiency in the acid alpha-glucosidase enzyme leading to the build-up of glycogen within lysosomes, which can result in severe cardiac, pulmonary, and skeletal disorders. The ag...