Publications
- Clinical spectrum in CADASIL family with a new mutation2013 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | 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
- Clinical manifestation of the Fabry disease in femalesPublication 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
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | First Faculty of Medicine, Central Library of Charles University
Loading network view...
