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2024	Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains Orphanet Journal of Rare Diseases Emily McDool, Philip Powell, Jill Carlton
2023	A Comprehensive Update on Late-Onset Pompe Disease Biomolecules Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
2021	Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function Molecular Genetics and Metabolism Reports Lisa D. Hobson-Webb, Paul J. Zwelling, Shruti S. Raja, Ashley N. Pifer, Priya S. Kishnani