Publications
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
- Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 12020 | 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
- Pompeho nemoc2016 | First Faculty of Medicine, Second Faculty of Medicine
- A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)2016 | First Faculty of Medicine
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis2016 | First Faculty of Medicine
- Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C2016 | First Faculty of Medicine
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years2014 | First Faculty of Medicine
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
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