Publications
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation2020 | First Faculty of Medicine
- Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients2018 | First Faculty of Medicine
- Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances2015 | First Faculty of Medicine
- Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient2014 | First Faculty of Medicine
- Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency2014 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | First Faculty of Medicine
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG2023 | First Faculty of Medicine
- Congenital disorders of glycosylation: Still "hot" in 20202021 | First Faculty of Medicine
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