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Acid alpha-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
Schoser B, Raben N, Varfaj F, Walzer M, Toscano A. Schoser B, et al. Mol Genet Metab Rep. 2024 Apr 25;39:101085. doi: 10.1016/j.ymgmr.2024.101085. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38698877 Free PMC article.
This systematic literature review aims to provide an overview of the available information on GAA activity and glycogen content levels in skeletal muscle biopsies from patients with Pompe disease. A structured review of PubMed and Google Scholar literature (w …
This systematic literature review aims to provide an overview of the available information on GAA activity and glycogen conten …
Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.
Maulet T, Bonnyaud C, Weill C, Laforêt P, Cattagni T. Maulet T, et al. Neurology. 2023 Jan 3;100(1):e72-e83. doi: 10.1212/WNL.0000000000201333. Epub 2022 Oct 27. Neurology. 2023. PMID: 36302669 Free article.
BACKGROUND AND OBJECTIVES: Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. The late-onset Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial, and proximal extr …
BACKGROUND AND OBJECTIVES: Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid a …