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Search for publications relevant for "mitochondriální onemocnění"
mitochondriální onemocnění
Publication
Class
Person
Publication
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publication
Polarographic analyses in mitopathies
Publication without faculty affiliation
publication
Elevated lactate is a reliable marker pointing to mitochondrial disorders even in children after brief seizures.
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine
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Experiences with prenatal diagnostics in mitochondrial disorders
Publication without faculty affiliation
publication
Biochemical genetics and mitochondrial disorders in childhood
Publication without faculty affiliation
publication
Biochemical analysis of mitochondrial diseases in blood cells
Publication without faculty affiliation
publication
Mitochondrial diseases in the children
Publication without faculty affiliation
publication
Polarographis investigations in mitochondrial disorders
Publication without faculty affiliation
publication
Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
2010 |
First Faculty of Medicine
publication
Expression of Ndi1p, an alternative NADH:ubiquinone oxidoreductase, increases mitochondrial membrane potential in a C. elegans model of mitochondrial disease
2007 |
Faculty of Mathematics and Physics
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Metabolic myopathies
2022 |
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
Mitochondriální onemocnění: klinické, biochemické a molekulární analýzy u 178 dětí s poruchou cytochrom c oxidázy
Publication without faculty affiliation
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Second Faculty of Medicine
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Gene therapy for inherited retinal and optic nerve disorders : current knowledge
2016 |
Faculty of Physical Education and Sport, First Faculty of Medicine
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Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
2020 |
First Faculty of Medicine
publication
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) - a case report of the rare diasease with radiological findings
2010 |
First Faculty of Medicine
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
Second Faculty of Medicine
publication
Mitochondrial diabetes in common clinical practice
2020 |
Third 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
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
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Alternating hemiplegia of childhood
2023 |
First Faculty of Medicine
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Mitochondrial metabolism in mammalian spermatozoa - a minireview
2015 |
First Faculty of Medicine
publication
Psychiatric manifestation of inborn errors of metabolism
2015 |
Faculty of Physical Education and Sport, First Faculty of Medicine
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Recent advances in microscopic diagnosis of cardiomyopathies
2019 |
Second Faculty of Medicine
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Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine
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Mitochondria - from origin to current therapies
2021 |
Third Faculty of Medicine