Classes
Publications
- Quality of life of persons taking care of children with hereditary metabolic disease2012 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | 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
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease2011 | First Faculty of Medicine
- Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene2011 | First Faculty of Medicine
- Neurotransmitter disorders in childhood and differential diagnosis2010 | First Faculty of Medicine
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Inherited disorders of carbohydrate metabolism2023 | First Faculty of Medicine
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine
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