"Mitochondrial energetic metabolism in neonatal period"@en . . "3"^^ . . "0"^^ . . "3"^^ . . "http://www.isvav.cz/projectDetail.do?rowId=NT11186"^^ . . . " diagnostics" . "The development of new noninvasive methods for diagnostics of mitochondrial disorders in minimal amount of samples is crucial for analysis of mitochondrial energetic metabolism in critically ill neonates. New methods for analysis of activity and amount of OXPHOS and PDH complexes in buccal swab cells and dry blood spots will be developed. The methods will be used for the analysis of biogenesis of OXPHOS and PDH complexes in preterm neonates. In critically ill nenonates, the amount and activity of the complexes will be characterized. New noninvasive methods improve diagnostics of mitochondrial disorders in neonates, enable early genetic counseling in affected families and extend knowledge regarding developmental changes of mitochondrial energetic metabolism in neonatal period."@en . . . "2014-12-31+01:00"^^ . " OXPHOS maturation" . . "NT11186" . . . "2010-09-01+02:00"^^ . "Rozvoj nov\u00FDch metod pro diagnostiku mitochondri\u00E1ln\u00EDch onemocn\u011Bn\u00ED v minim\u00E1ln\u00EDm mno\u017Estv\u00ED biologick\u00E9ho materi\u00E1lu z\u00EDskan\u00E9m neinvazivn\u00EDm zp\u016Fsobem je nezbytn\u00FD p\u0159edpoklad pro anal\u00FDzu mitochondri\u00E1ln\u00EDho energetick\u00E9ho metabolismu u kriticky nemocn\u00FDch novorozenc\u016F. Budou zevedeny metody pro stanoven\u00ED mno\u017Estv\u00ED komplex\u016F PDH a d\u00FDchac\u00EDho \u0159et\u011Bzce v bu\u0148k\u00E1ch buk\u00E1ln\u00EDho st\u011Bru a v such\u00FDch kapk\u00E1ch krve. Metody budou pou\u017Eity na anal\u00FDzu maturace t\u011Bchto komplex\u016F v soubor nedono\u0161en\u00FDch novorozenc\u016F. U kriticky nemocn\u00FDch novorozenc\u016F bude studov\u00E1no mno\u017Estv\u00ED (aktivita) vybran\u00FDch mitochondri\u00E1ln\u00EDch komplex\u016F. Nov\u00E9 metody v\u00FDrazn\u011B zlep\u0161\u00ED diagnostick\u00E9 mo\u017Enosti mitochondri\u00E1ln\u00EDch onemocn\u011Bn\u00ED u novorozenc\u016F, umo\u017En\u00ED v\u010Dasn\u00E9 genetick\u00E9 poradenstv\u00ED v posti\u017Een\u00FDch rodin\u00E1ch a prohloub\u00ED dosavadn\u00ED znalosti o mitochondri\u00E1ln\u00EDm energetick\u00E9m metabolismu u kriticky nemocn\u00FDch novorozenc\u016F." . "Mitochondri\u00E1ln\u00ED energetick\u00FD metabolismus v novorozeneck\u00E9m obdob\u00ED" . . . " nenonates" . "2013-03-26+01:00"^^ . . . "0"^^ . "2015-01-22+01:00"^^ . . "mitochondrial disorders; nenonates; OXPHOS maturation; diagnostics; critically-ill neonate"@en . . "1"^^ . "mitochondrial disorders" . .