Publications
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency2019 | First Faculty of Medicine
- Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency2018 | First Faculty of Medicine
- X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities2016 | First Faculty of Medicine
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | 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
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | Publication without faculty affiliation
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | First Faculty of Medicine
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | Faculty of Physical Education and Sport
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
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