Article
A Comprehensive Update on Late-Onset Pompe Disease.
Biomolecules - 22 Aug 2023
Labella Beatrice, Cotti Piccinelli Stefano, Risi Barbara, Caria Filomena, Damioli Simona, Bertella Enrica, Poli Loris, Padovani Alessandro, Filosto Massimiliano
Abstract excerpt
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 presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried...
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