Classes
Publications
- Importance of early diagnostics of inherited metabolic disorders in neonatal age2013 | First 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
- 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
- Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?2010 | 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
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- Mitochondrial energy metabolism in premature liver tissuePublication without faculty affiliation
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