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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Aging (Albany NY)
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Impact Journals 2020
Aiheet:
Review
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7467391/
https://ncbi.nlm.nih.gov/pubmed/32745073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/aging.103794
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