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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
2021 · Jordi Diaz-Manera, Priya S Kishnani, et al. · The Lancet Neurology · 185
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Trial of N -Acetyl- l -Leucine in Niemann–Pick Disease Type C
2024 · Tatiana Bremova-Ertl, Uma Ramaswami, et al. · New England Journal of Medicine · 105
TMEM70 deficiency: long‐term outcome of 48 patients
2014 · Martin Magner, Veronika Dvorakova, et al. · Journal of Inherited Metabolic Disease · 69
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
2023 · Priya S. Kishnani, Jordi Diaz-Manera, et al. · JAMA Neurology · 57
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Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature
2016 · Stella Mazurova, Martin Magner, et al. · Cardiology in the Young · 32
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
2014 · Antonín Šípek, Lucie Grodecká, et al. · American Journal of Medical Genetics Part A · 23
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 · S. Mazurová, M. Tesařová, et al. · Prague Medical Report · 18
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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
2020 · Stella Mazurova, Marketa Tesarova, et al. · The Journal of Dermatology · 15
Disease-Modifying, Neuroprotective Effect of N-Acetyl- l -Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C
2025 · Marc C. Patterson, Uma Ramaswami, et al. · Neurology · 13
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders
2024 · Julien Park, Tatiana Bremova-Ertl, et al. · Journal of Neurology · 12
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LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method
2024 · Ladislav Kuchar, Linda Berna, et al. · Clinica Chimica Acta · 9
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic
2021 · Petra Reková, Gabriela Dostálová, et al. · Journal of Clinical Medicine · 7
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Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
2023 · Věra Malinová, Helena Poupětová, et al. · International Journal of Molecular Sciences · 6
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Erratum to: TMEM70 deficiency: long‐term outcome of 48 patients
2015 · Martin Magner, Veronika Dvorakova, et al. · Journal of Inherited Metabolic Disease · 3
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COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
2015 · Lucie Hrušková, Ivan Mazura, et al. · Advances in Genomics and Genetics · 2
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Disease-Modifying, Neuroprotective Effect of N-acetyl-L-leucine in Adult and Pediatric Patients with Niemann–Pick disease type C
2024 · Marc Patterson, Uma Ramaswami, et al. · medRxiv · 1
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Fabry disease in childhood - overview and a case report
2022 · Petr Munzar, Stella Mazurová, et al. · Česko-slovenská pediatrie · 1
TMEM70 deficiency: long-term outcome of 48 patients (vol 38, pg 417, 2015)
2015 · Martin Magner, Veronika Dvořáková, et al. · UCL Discovery (University College London) · 1
Assessment of the Reliability, Responsiveness, and Meaningfulness of the Scale for the Assessment and Rating of Ataxia (SARA) for Lysosomal Storage Disorders
2024 · Julien Park, Tatiana Bremova-Ertl, et al. · medRxiv
Results of a phase III, randomized, placebo-controlled crossover trial with -acetyl-L-leucine for Niemann-Pick disease type C
2024 · Taylor Fields, Tatiana Bremova-Ertl, et al. · Molecular Genetics and Metabolism
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
2021 · Jorge Alberto Diaz Manera, Priya S. Kishnani, et al. · Newcastle University ePrints (Newcastle Univesity)
Clinical aspects of selected rare diseases in children.
2021 · Mazurová, Stella · Digital Repository (National Repository of Grey Literature)
Srdeční selhání jako první projev Barthova syndromu
2014 · Marie Ryzí, Michal Ryzí, et al. · Pediatrie pro praxi
Novel FBN1 Gene Mutation and Maternal Germinal Mosaicism as the Cause of Neonatal Form of
2014 · Lucie Grodecká, A Baxová, et al.
Works count: 24
Citation count: 559
H-index: 10
I10-index: 10
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