Publications
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency2018 | First Faculty of Medicine
- Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities2017 | 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
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | First Faculty of Medicine
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease2016 | First Faculty of Medicine
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?2006 | First Faculty of Medicine
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | First Faculty of Medicine, Faculty of Physical Education and Sport
- 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
Loading network view...