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Epilepsie
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doc. RNDr. MUDr. Pavel Ješina Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
2011 |
Faculty of Science, First Faculty of Medicine
publication
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
2011 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
First Faculty of Medicine
publication
Neurotransmitter disorders in childhood and differential diagnosis
2010 |
First Faculty of Medicine
publication
Neurotransmitter disorders in childhood and differential diagnosis
2010 |
Publication without faculty affiliation
publication
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
2024 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
publication
A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient
2023 |
First Faculty of Medicine
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