- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients2018 | First Faculty of Medicine
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | 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
- International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up2019 | First Faculty of Medicine
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG2023 | First Faculty of Medicine