Publications
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- Girl with congenital disorder of glycosylation - case report2009 | First Faculty of Medicine
- Haematological complications in 9 patients with CDG syndrome type IaPublication without faculty affiliation
- Congenital disorders of glycosylation (CDG Syndrome) in fourteen children with psychomotor delay, hypotonia, strabismus and other various organ involvement +1Publication without faculty affiliation
- Iffy problems in molecular diagnostics in a patient with CDG la syndromePublication without faculty affiliation
- Unexpencted results of molecular diagnostics in a patient with CDG la syndromePublication without faculty affiliation
- Problémy s DNA diagnostikou u pacitenta s CDG la syndromem... '' i krev může mít svá tajemství''Publication without faculty affiliation
- Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX2022 | First Faculty of Medicine
- Iron Complexes of Flavonoids-Antioxidant Capacity and Beyond2021 | First Faculty of Medicine
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