A Comprehensive Update on Late-Onset Pompe Disease
B Labella, S Cotti Piccinelli, B Risi, F Caria, S Damioli… - Biomolecules, 2023 - mdpi.com
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …
Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains
Abstract Background Lysosomal storage diseases (LSDs) are a group of rare inherited
metabolic disorders, consisting of over 70 diseases that are characterised by lysosomal …
metabolic disorders, consisting of over 70 diseases that are characterised by lysosomal …
[HTML][HTML] Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: a pilot study of reliability, longitudinal change and …
LD Hobson-Webb, PJ Zwelling, SS Raja… - Molecular Genetics and …, 2021 - Elsevier
Abstract Background/objectives Late-onset Pompe disease (LOPD) is slowly progressive,
making it difficult to assess clinical change and response to interventions. In this study …
making it difficult to assess clinical change and response to interventions. In this study …
HTA103 Systematic Literature Reviews to Identify Clinical and Economic Outcomes in Adults With Pompe Disease
Objectives Pompe disease (PD) is a rare, progressive neuromuscular disease caused by
deficiency of acid alpha-glucosidase. The current standard of care for PD is enzyme …
deficiency of acid alpha-glucosidase. The current standard of care for PD is enzyme …