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RNDr. Lucie Rychtárová Ph.D.
External person at First Faculty of Medicine
8 publications
Publications
publication
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
2023 |
First Faculty of Medicine
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022