ℹ️
🇬🇧
Search
Search for people relevant for "congenital disorders of glycosylation"
congenital disorders of glycosylation
Person
Class
Person
Publication
Programmes
Export current view
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 |
First Faculty of Medicine
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine
publication
Congenital disorders of glycosylation: alpha-dystroglycanopathies
2017 |
First Faculty of Medicine
publication
Comparable respiratory activity in attached and suspended human fibroblasts
2022 |
First Faculty of Medicine
publication
New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity
2022 |
First Faculty of Medicine
publication
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
2021 |
First Faculty of Medicine
Loading network view...