Publications
- The coincidence of IgA nephropathy and Fabry disease2013 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | First Faculty of Medicine
- Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat2011 | First Faculty of Medicine
- Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.2009 | First Faculty of Medicine
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | 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
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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