Publications
- Vrozené metabolické poruchy2015 | First Faculty of Medicine
- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data2015 | First Faculty of Medicine
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years2014 | First Faculty of Medicine
- Mucopolysaccharidoses - clinical manifestations, diagnostics and therapy2013 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Quality of life of persons taking care of children with hereditary metabolic disease2012 | First Faculty of Medicine
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Mucopolysacharidosis2011 | First Faculty of Medicine
- Histopathological Diagnosis of Mitochondrial Myopathies – Indications and the Utility of Muscle Biopsy2011 | First Faculty of Medicine
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