Classes
Publications
- Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018 | First Faculty of Medicine
- Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure2012 | First Faculty of Medicine
- Mucopolysacharidosis2011 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- Cytochrome C oxidase deficiency in childhood2009 | First Faculty of Medicine
- Enzyme replacement therapy for Gaucher disease in twin pregnancy2009 | 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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