Publications
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | First Faculty of Medicine, Second Faculty of Medicine
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat2011 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency2010 | First Faculty of Medicine
- Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I2010 | 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
- Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes2008 | First Faculty of Medicine
- An Unusual Cause of Renal Amyloidosis Secondary to Gout - the First Description of Familial Occurrence2006 | First Faculty of Medicine, Third Faculty of Medicine
Loading network view...