Publications
- Clinical spectrum in CADASIL family with a new mutation2013 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency2010 | First Faculty of Medicine
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Unusual cause of stroke: CADASIL with novel mutation in Czech patient2006 | First Faculty of Medicine, Third Faculty of Medicine
- Dual hereditary jaundice: simultaneous occurence of mutations causing Gilbert's and Dubin-Johnson syndrome2005 | First Faculty of Medicine, Third Faculty of Medicine
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | First Faculty of Medicine
- Benign recurrent intrahepatic cholestasis associated with a novel mutation in FIC1/ATP8B1 gene case reportPublication without faculty affiliation
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
Loading network view...
