Publications
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | 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
- Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients2018 | 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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