Publications
- 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
- Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes2011 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third 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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