- Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches2023 | First Faculty of Medicine
- Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?2021 | First Faculty of Medicine
- Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients2018 | First Faculty of Medicine
- Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?2019 | First Faculty of Medicine
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG2023 | First Faculty of Medicine
- Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report2020 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up2019 | First Faculty of Medicine
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | First Faculty of Medicine