Pompe disease in China: clinical and molecular characteristics

Pompe disease in China: clinical and molecular characteristics

BackgroundPompe disease (PD) is a rare, progressive, and autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. The clinical course and molecular mechanism of this disease in China have not been well defined.MethodsIn this single-center cohort study, we in...

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Bibliographic Details
Main Authors: Jing Li, Xiaohe Shi, Bo Wang, David H. Hsi, Xiaoli Zhu, Shengjun Ta, Jing Wang, Changhui Lei, Rui Hu, Junzhe Huang, Xueli Zhao, Liwen Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Pompe disease
infant-onset Pompe disease
China
hypertrophic cardiomyopathy
echocardiography
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1261172/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2023.1261172/full

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