Ela Stefanescu

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

D. Bali, P. Kishnani, S. Austin, 2019, Genetics in Medicine.

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.

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III

P. Kishnani, S. Austin, S. Young, 2020, JIMD reports.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

D. Bali, P. Kishnani, S. Austin, 2019, Genetics in Medicine.