- Enzyme replacement therapy in lysosomal storage diseases2015 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Musculoskeletal involvement in patients with lysosomal storage disease2019 | First Faculty of Medicine
- Lysosomal storage diseases: current diagnostic and therapeutic options2013 | First Faculty of Medicine
- Lysosomal storage diseases: current diagnostic and therapeutic options (continued)2013 | First Faculty of Medicine
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy2001 | First Faculty of Medicine
- Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases2003 | First Faculty of Medicine
- History of lysosomal storage diseases: an overview2006 | First Faculty of Medicine
- Fabry disease - lysosomal storage disease with multiorgan involvement.2012 | First Faculty of Medicine
- Pulmonary storage2022 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis2008 | First Faculty of Medicine
- Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis2008 | Publication without faculty affiliation
- Fabry's disease from the point of view of nephrology2015 | First Faculty of Medicine
- Development of a mnemonic screening tool for identifying subjects with Hunter syndrome2013 | First Faculty of Medicine
- Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study2020 | First Faculty of Medicine
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
- Cardiovascular events in patients with Fabry disease. Natural history data from the Fabry registry.2011 | First Faculty of Medicine
- The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)2013 | First Faculty of Medicine
- Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders1997 | First Faculty of Medicine
- Gaucher disease - current possibilities of therapy2019 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI2011 | First Faculty of Medicine
- The late-onset form of Pompe disease2021 | First Faculty of Medicine
- Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries2010 | First Faculty of Medicine
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublication without faculty affiliation
- Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease2000 | First Faculty of Medicine
- Disseminated Purple Papules2009 | First Faculty of Medicine
- Fabry disease +12018 | First Faculty of Medicine
- Rare neurodegenerative and neurometabolic brain diseases2014 | First Faculty of Medicine