Publications
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | 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
- Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances2015 | First Faculty of Medicine
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | 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
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
Loading network view...