Publications
- Biochemistry of Fabry Disease2010 | First Faculty of Medicine
- Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation2005 | First Faculty of Medicine
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population2005 | First Faculty of Medicine
- Clinical manifestation of the Fabry disease in femalesPublication without faculty affiliation
- Gonadal mosaicism responsible for an atypical genetic teransfer of Fabry disease in familyPublication 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
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