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Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

Authors :
Sergio Muñoz
Joan Bertolin
Veronica Jimenez
Maria Luisa Jaén
Miquel Garcia
Anna Pujol
Laia Vilà
Victor Sacristan
Elena Barbon
Giuseppe Ronzitti
Jihad El Andari
Warut Tulalamba
Quang Hong Pham
Jesus Ruberte
Thierry VandenDriessche
Marinee K. Chuah
Dirk Grimm
Federico Mingozzi
Fatima Bosch
Source :
Molecular Metabolism, Vol 81, Iss , Pp 101899- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Abstract

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs

Details

Language :
English
ISSN :
22128778
Volume :
81
Issue :
101899-
Database :
Directory of Open Access Journals
Journal :
Molecular Metabolism
Publication Type :
Academic Journal
Accession number :
edsdoj.51f4889c5f3c445fbc764529166584d8
Document Type :
article
Full Text :
https://doi.org/10.1016/j.molmet.2024.101899