Publications
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | First Faculty of Medicine
- X-linked Adrenoleukodystrophy in Twenty One Czech Patients2006 | First Faculty of Medicine
- Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange2001 | First Faculty of Medicine
- X-linked adrenoleukodystrophy: mutation analysis in patients from fourteen Czech and Slovak familiesPublication without faculty affiliation
- 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 deficiencyPublication without faculty affiliation
- The first polymorphism causing an amino acid exchange in the ALDP-gene. Eight novel mutations and three polymorphisms in patients with X-linked adrenoleukodystrophyPublication without faculty affiliation
- Mutation analysis in families with X-linked adrenoleukodystrophy (X-ALD) and ornithinkarbamoyltransferase (OTC) deficiencyPublication without faculty affiliation
- 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
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