Pompe disease: pathogenesis, molecular genetics and diagnosis

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1...

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Detalles Bibliográficos
Autores principales: Taverna, Simona, Cammarata, Giuseppe, Colomba, Paolo, Sciarrino, Serafina, Zizzo, Carmela, Francofonte, Daniele, Zora, Marco, Scalia, Simone, Brando, Chiara, Curto, Alessia Lo, Marsana, Emanuela Maria, Olivieri, Roberta, Vitale, Silvia, Duro, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467391/
https://www.ncbi.nlm.nih.gov/pubmed/32745073
http://dx.doi.org/10.18632/aging.103794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467391/
https://www.ncbi.nlm.nih.gov/pubmed/32745073
http://dx.doi.org/10.18632/aging.103794

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