期刊
ANNALS OF TRANSLATIONAL MEDICINE
卷 7, 期 13, 页码 -出版社
AME PUBL CO
DOI: 10.21037/atm.2019.05.29
关键词
Pompe disease; energy metabolism; fatigue; axial myopathy; enzyme replacement therapy (ERT); gene therapy; unmet needs
Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, and energy deficit are regularly observed. Enzyme replacement therapy has been available for patients living with Pompe disease for more than 15 years. Although our disease knowledge has grown enormously, we still have multiple challenges to overcome. Here, I will discuss unmet clinical needs, neglected or overlooked aspects of the pathophysiology, and issues related to future therapies.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据