Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment2019 | 1. lékařská fakulta
- Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency2019 | 1. lékařská fakulta
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 1. lékařská fakulta
- Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency2018 | 1. lékařská fakulta
- Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient2018 | 1. lékařská fakulta
- Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases2017 | 1. lékařská fakulta
- N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV2017 | 1. lékařská fakulta
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease2016 | 1. lékařská fakulta
- Defekty lysosomální funkce ve vztahu k mozkové dysfunkci: zhodnocení rolí neuroaxonální dystrofie2010 | 1. lékařská fakulta
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