Publications
- 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
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | First Faculty of Medicine
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | First Faculty of Medicine
- Dropped head syndrome in severe intractable epilepsies with mental retardation2005 | First Faculty of Medicine
- Dropped head syndrome in severe intractable epilepsies with mental retardation2005 | Faculty of Physical Education and Sport
- The metabolic and molecular study in six children with short-chain acyl-CoA dehydrogenase deficiencyPublication without faculty affiliation
- Biochemical diagnostics in a family with late-onset ornithine transcarbamysale deficiencyPublication without faculty affiliation
- Hereditary cerebellar ataxias in adults2019 | Second Faculty of Medicine
- Inherited metabolic disorders in the general practitioner's surgery - how to diagnose?2017 | Publication without faculty affiliation
- Care of prematurely born child: when to begin and end?2014 | First Faculty of Medicine
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