Publikace
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | 1. lékařská fakulta
- X-vázaná adrenoleukodystrofie u jednadvaceti českých pacientů2006 | 1. lékařská fakulta
- Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange2001 | 1. lékařská fakulta
- X-linked adrenoleukodystrophy: mutation analysis in patients from fourteen Czech and Slovak familiesPublikace bez příslušnosti k fakultě
- Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiencyPublikace bez příslušnosti k fakultě
- The first polymorphism causing an amino acid exchange in the ALDP-gene. Eight novel mutations and three polymorphisms in patients with X-linked adrenoleukodystrophyPublikace bez příslušnosti k fakultě
- Mutation analysis in families with X-linked adrenoleukodystrophy (X-ALD) and ornithinkarbamoyltransferase (OTC) deficiencyPublikace bez příslušnosti k fakultě
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | 1. lékařská fakulta
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Hradci Králové
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