Classes
Publications
- Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.2010 | First Faculty of Medicine
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure2009 | First Faculty of Medicine
- DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY2009 | First Faculty of Medicine
- Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene2008 | First Faculty of Medicine
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | First Faculty of Medicine
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | First Faculty of Medicine, Second Faculty of Medicine
- Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma2014 | First Faculty of Medicine
- Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis2013 | First Faculty of Medicine, Third Faculty of Medicine
- Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens2012 | First Faculty of Medicine
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