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Progress and challenges of gene therapy for Pompe disease

Pompe disease (PD) is a monogenic disorder caused by mutations in the acid alpha-glucosidase gene (Gaa). GAA is a lysosomal enzyme essential for the degradation of glycogen. Deficiency of GAA results in a severe, systemic disorder that, in its most severe form, can be fatal. About a decade ago, the...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642941/
https://ncbi.nlm.nih.gov/pubmed/31392199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.04.67
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