A Comprehensive Update on Late-Onset Pompe Disease

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...

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Detalles Bibliográficos
Autores principales: Labella, Beatrice, Cotti Piccinelli, Stefano, Risi, Barbara, Caria, Filomena, Damioli, Simona, Bertella, Enrica, Poli, Loris, Padovani, Alessandro, Filosto, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10526932/
https://www.ncbi.nlm.nih.gov/pubmed/37759679
http://dx.doi.org/10.3390/biom13091279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10526932/
https://www.ncbi.nlm.nih.gov/pubmed/37759679
http://dx.doi.org/10.3390/biom13091279

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