List of works by Nina Ondrušková

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

scientific article

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

scientific article

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

scientific article published on 01 January 2015

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

scientific article

RFT1-CDG in adult siblings with novel mutations

scientific article published on 13 October 2012

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

scientific article

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