- Diagnosis of Niemann-Pick type C (NPC) - Decisions at the cell level. Pathologist's report2010 | First Faculty of Medicine
- Cataplexy and sleep disorders in Niemann-Pick type C disease2015 | First Faculty of Medicine
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?2006 | First Faculty of Medicine
- Acetyl-DL-leucine in Niemann-Pick type C A case series2015 | First Faculty of Medicine
- Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementary group). Report of a case2001 | First Faculty of Medicine
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | First Faculty of Medicine
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | Faculty of Physical Education and Sport
- Mutational analysis of 23 Niemann-Pick type A and B patients - 20 novel mutationsPublication without faculty affiliation
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
- Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat2011 | First Faculty of Medicine
- A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient2023 | First Faculty of Medicine
- Consensus clinical management guidelines for Niemann-Pick disease type C2018 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C2016 | First Faculty of Medicine
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | First Faculty of Medicine
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C2021 | First Faculty of Medicine
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up2019 | First Faculty of Medicine
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 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
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease2016 | 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