Classes
Publications
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | First Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine, Faculty of Science
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.2011 | First Faculty of Medicine
- Histopathological Diagnosis of Mitochondrial Myopathies – Indications and the Utility of Muscle Biopsy2011 | First Faculty of Medicine
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease2011 | First Faculty of Medicine
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