Publications
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Modern diagnostic approach to hereditary xanthinuria2015 | First Faculty of Medicine
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients2000 | First Faculty of Medicine
- Partial deficiency of HGPRT in a girlPublication 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
- Partial HPRT deficiency in a girlPublication without faculty affiliation
- Adenylosukcinatlyasa a její isoforma v lidských tkáníchPublication without faculty affiliation
- Unusual presentatïon of partial hypoxanthine phosphoribosyltransferase deficiency in a female patientPublication without faculty affiliation
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