Publikace
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | 1. lékařská fakulta
- Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation2018 | 1. lékařská fakulta
- Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances2015 | 1. lékařská fakulta
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | 1. lékařská fakulta
- Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency2014 | 1. lékařská fakulta
- Problémy s diagnostikou dědičných poruch glykosylace typu I způsobené mutacemi v glykosylačním místě transferinu2011 | 1. lékařská fakulta
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | 1. lékařská fakulta
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG2023 | 1. lékařská fakulta
- Congenital disorders of glycosylation: Still "hot" in 20202021 | 1. lékařská fakulta
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | 1. lékařská fakulta
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