Publications
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | Faculty of Science, First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine
- Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms2010 | First Faculty of Medicine
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | Faculty of Science, First Faculty of Medicine
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | First Faculty of Medicine
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant2022 | First Faculty of Medicine
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