Wilton, Stephen Donald,Fletcher, Sue,Hanson, Gunnar James,Bestwick, Richard Keith
申请号：
AU2014317961
公开号：
AU2014317961A1
申请日:
2014.09.05
申请国别(地区):
AU
年份:
2016
代理人:
摘要：
The present disclosure relates to antisense oligomers and related compositions and methods for inducing exon inclusion as a treatment for glycogen storage disease type II (GSD-II) (also known as Pompe disease, glycogenosis II, acid maltase deficiency (AMD), acid alpha-glucosidase deficiency, and lysosomal alpha-glucosidase deficiency), and more specifically relates to inducing inclusion of exon 2 and thereby restoring levels of enzymatically active acid alpha-glucosidase (GAA) protein encoded by the
