ℹ️
🇬🇧
Search
Search for people relevant for "Onemocnění"
Onemocnění
Person
Class
Person
Publication
Programmes
Ing. Markéta Tesařová Ph.D.
Academic staff at First Faculty of Medicine
194 publications
Publications
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
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
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
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
Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
2010 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
publication
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
2009 |
First Faculty of Medicine
publication
Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
Faculty of Science, First Faculty of Medicine
Load more publications (184)
Loading network view...