Publications
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat2011 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I2010 | First Faculty of Medicine
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | First Faculty of Medicine
- Changes in the microbial colonization of the periodontal regionin relation to conservative periodontal treatment in diabetic patients2002 | First Faculty of Medicine
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | First Faculty of Medicine
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | First Faculty of Medicine
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
Loading network view...