Publications
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | 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
- 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, Central Library of Charles University, Second Faculty of Medicine, 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, Central Library of Charles University, Second Faculty of Medicine
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Mathematics and Physics
- 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, Central Library of Charles University, Second 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
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