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inborn errors of metabolism
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MUDr. Olga Ulmanová Ph.D.
Academic staff at First Faculty of Medicine
56 publications
Publications
publication
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
2020 |
First Faculty of Medicine
publication
Is retina affected in Huntington's disease? Is optical coherence tomography a good biomarker?
2023 |
First Faculty of Medicine
publication
Essential and dystonic head tremor: More similarities than differences
2023 |
First Faculty of Medicine
publication
Somatosensory temporal discrimination threshold does not discriminate between patients with essential and dystonic head tremor
2022 |
First Faculty of Medicine
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
First Faculty of Medicine
publication
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
2021 |
First Faculty of Medicine
publication
Hereditary gelsolin amyloidosis - clinical symptoms and molecular genetic cause
2021 |
First Faculty of Medicine
publication
Neuropsychiatry: a clinical guide for outpatient and clinical practice
2020 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Eye movement abnormalities are associated with brainstem atrophy in Wilson disease
2020 |
First Faculty of Medicine
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