Publications
- Clinical spectrum in CADASIL family with a new mutation2013 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Role of Common Canalicular Transporter Gene Variations in Aetiology of Idiopathic Gallstones in Childhood2010 | First Faculty of Medicine
- Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease2010 | First Faculty of Medicine
- Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans2010 | First Faculty of Medicine
- Biochemistry of Fabry Disease2010 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Effect of miglustat on bone disease in adults with type 1 Gaucher disease: A pooled analysis of three multinational, open-label studies +12007 | First Faculty of Medicine
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