Publications
- The coincidence of IgA nephropathy and Fabry disease2013 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency2010 | First Faculty of Medicine
- Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.2009 | First Faculty of Medicine
- Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes2008 | 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
- Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population2021 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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