Publications
- 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
- Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports2010 | 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
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Cytosine-Adenosine (CA)(n) repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age2009 | First Faculty of Medicine
- SURF1 missense mutations promote a mild Leigh phenotype2009 | First Faculty of Medicine
- Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene2008 | First Faculty of Medicine
- Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX2022 | First Faculty of Medicine
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