Classes
Publications
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment2010 | 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
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | First Faculty of Medicine
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | First Faculty of Medicine
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | First Faculty of Medicine
- CLN52011 | First Faculty of Medicine
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