Mitochondrial dysfunction is associated with hypertrophic cardiomyopathy in Pompe disease-specific induced pluripotent stem cell-derived cardiomyocytes

Wenjun Huang, Rui Zhou, Congshan Jiang, Jie Wang, Yafei Zhou, Xiaoyan Xu, Tao Wang, Anmao Li, Yanmin Zhang

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox & Benedikt Schoser

Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)

Barry J. Byrne, Benedikt Schoser, Tahseen Mozaffar

Failure of Autophagy in Pompe Disease

Hung Do , Naresh K. Meena and Nina Raben

Acid alpha-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review

Benedikt Schoser, Nina Raben, Fatbardha Varfaj, Mark Walzer, Antonio Toscano

Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders

Julie C Ullman , Kevin T Mellem , Yannan Xi, Vyas Ramanan, Hanne Merritt , Rebeca Choy et al.

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning

J. J. A. van den Dorpel, M. J. Mackenbach, M. H. G. Dremmen, W. M. C. van der Vlugt, D. Rizopoulos, P. A. van Doorn, A. T. van der Ploeg, R. Muetzel, N. A. M. E. van der Beek, J. M. P. van den Hout