Publications
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | First Faculty of Medicine, Second Faculty of Medicine
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | First Faculty of Medicine
- Fabry disease in childhood - overview and a case report2022 | First Faculty of Medicine
- Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic2021 | First Faculty of Medicine, Second Faculty of Medicine
- Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency2020 | First Faculty of Medicine
- Pompeho nemoc2016 | First Faculty of Medicine, Second Faculty of Medicine
- Gaucher disease and lysosomal disorders - current options in evaluation and therapy2016 | First Faculty of Medicine
- TMEM70 deficiency: long-term outcome of 48 patients2015 | First Faculty of Medicine
- COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 32015 | First Faculty of Medicine
- Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome2014 | First Faculty of Medicine
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