Publications
- Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency2018 | 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
- 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
- Mutational analysis of 23 Niemann-Pick type A and B patients - 20 novel mutationsPublication without faculty affiliation
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency2022 | First Faculty of Medicine, Central Library of Charles University
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
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