Publications
- Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease2013 | First Faculty of Medicine
- Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens2012 | 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
- Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis2010 | 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
- 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
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | First Faculty of Medicine
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | First Faculty of Medicine
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