Publications
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | Third Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Extremely low birthweight neonates with phenylketonuria require special dietary management2021 | First Faculty of Medicine, Central Library of Charles University
- 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
- Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C2016 | First Faculty of Medicine
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years2014 | First Faculty of Medicine
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- X-linked Adrenoleukodystrophy in Twenty One Czech Patients2006 | First Faculty of Medicine
- Stroke-like episodes in Czech patients with CDG syndrome type IAPublication without faculty affiliation
- Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease2023 | First Faculty of Medicine
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