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Glucocerebrosidase
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Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes
2011 |
First Faculty of Medicine
publication
A case of cutaneous collagenous vasculopathy associated with multiple myeloma and with a pathogenic variant of the glucocerebrosidase gene
2022 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Analysis of the (-Glucocerebrosidase Gene in Czech and slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles.
1999 |
Faculty of Physical Education and Sport
publication
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
2003 |
First Faculty of Medicine
publication
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
2003 |
Faculty of Physical Education and Sport
publication
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
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2009 |
First Faculty of Medicine
publication
Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder
2022 |
First Faculty of Medicine
publication
GBA variants in REM sleep behavior disorder: A multicenter study
2020 |
First Faculty of Medicine
publication
Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
2010 |
First Faculty of Medicine
publication
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010 |
First Faculty of Medicine
publication
Gaucher disease - current possibilities of therapy
2019 |
First Faculty of Medicine
publication
Permeability Barrier and Microstructure of Skin Lipid Membrane Models of Impaired Glucosylceramide Processing
2017 |
Faculty of Pharmacy in Hradec Králové