Publications
- The coincidence of IgA nephropathy and Fabry disease2013 | First Faculty of Medicine, Faculty of Physical Education and Sport
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | 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
- Fabry Disease: Nine New Mutations in alpha-Galactosidase A Gene and Molecular Carrier Detection2001 | First Faculty of Medicine
- Gonadal mosaicism responsible for an atypical genetic teransfer of Fabry disease in familyPublication without faculty affiliation
- Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiencyPublication without faculty affiliation
- Molecular study in the Czech and Slovak patients with Fabry diseasePublication without faculty affiliation
- Novel, non described mutations in Fabry disease patientsPublication without faculty affiliation
- Fabry Disease: Ten New Mutations in alpha-Galactosidase A Gene and Molecular Carrier DetectionPublication without faculty affiliation
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