Classes
Publications
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | 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
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries2010 | First Faculty of Medicine
- Diagnosis of Niemann-Pick type C (NPC) - Decisions at the cell level. Pathologist's report2010 | First Faculty of Medicine
- Subcellular, Cellular and Organ Pathology of Fabry Disease2010 | First Faculty of Medicine
- Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process2009 | First Faculty of Medicine
- Intravascular ultrasound assessment of coronary artery involvement in Fabry disease2008 | First Faculty of Medicine, Third Faculty of Medicine
- Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes2008 | First Faculty of Medicine
- Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy2008 | First Faculty of Medicine
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