Publications
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease2019 | First Faculty of Medicine, Second Faculty of Medicine
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | First 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
- Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance2022 | First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
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