Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency2018 | 1. lékařská fakulta
- Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities2017 | 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
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?2006 | 1. lékařská fakulta
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | 1. lékařská fakulta
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | Fakulta tělesné výchovy a sportu
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