Publications
- Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case2019 | First Faculty of Medicine
- Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients2018 | 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
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | 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
- Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX2018 | First Faculty of Medicine
- Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation2018 | First Faculty of Medicine
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