Stella Mazurová

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 169 citations · Full text

Late-onset Pompe Disease, Autoimmune Disease, Clinical Infectious Disease +3

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová et al. · Journal of Inherited Metabolic Disease · 2014 · 68 citations

Novel <i>FBN1</i> gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

A Šípek, Lucie Grodecká, A Baxová et al. · American Journal of Medical Genetics Part A · 2014 · 22 citations

Novel Mutations in the TAZ Gene in Patients with Barth Syndrome

Stella Mazurová, Markéta Tesařová, Martin Magner et al. · Prague Medical Report · 2013 · 18 citations · Full text

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with <i>EGFR</i> deficiency

Stella Mazurová, Markéta Tesařová, J Zeman et al. · The Journal of Dermatology · 2020 · 13 citations