Publications
- 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
- 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
- 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
- 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
- Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient2018 | First Faculty of Medicine
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | First Faculty of Medicine
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