Pompe en Detalle Mayo 2024 Todas las revistas Ir al última publicación 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 Ver seleccionados