R. Hopkin

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease

W. Hwu, M. Halberthal, B. Thurberg, 2007 .

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

M. Wangler, Paul C. Marcogliese, Hyung-Lok Chung, 2020, Neuron.