"\u010Cesko-slovensk\u00E1 pediatrie" . "Zeman, Ji\u0159\u00ED" . . . . "Wenchich, L\u00E1szl\u00F3" . . . . "Mitochondri\u00E1ln\u00ED poruchy se mohou projevit v kter\u00E9mkoliv v\u011Bku, ale vysok\u00E9 energetick\u00E9 n\u00E1roky na poporodn\u00ED adaptaci novorozence predisponuj\u00ED k \u010Dasn\u00E9 neonat\u00E1ln\u00ED manifestaci. C\u00EDlem pr\u00E1ce je snaha analyzovat klinick\u00E9 a laboratorn\u00ED projevy mitochondri\u00E1ln\u00EDch onemocn\u011Bn\u00ED v novorozeneck\u00E9m v\u011Bku. Navr\u017Een\u00E9 algoritmy pomohou usnadnit jejich diagnostiku. Mitochondri\u00E1ln\u00ED porucha se klinicky manifestovala u 75 d\u011Bt\u00ED v novorozeneck\u00E9m v\u011Bku, co\u017E p\u0159edstavuje 21 % pacient\u016F s mitochondri\u00E1ln\u00EDm onemocn\u011Bn\u00EDm, kter\u00E9 jsme diagnostikovali na biochemick\u00E9 a/nebo molekul\u00E1rn\u011B genetick\u00E9 \u00FArovni na na\u0161em pracovi\u0161ti. Na z\u00E1klad\u011B na\u0161ich v\u00FDsledk\u016F byl p\u0159ipraven diagnostick\u00FD algoritmus pro kriticky nemocn\u00E9ho novorozence s podez\u0159en\u00EDm na mitochondri\u00E1ln\u00ED onemocn\u011Bn\u00ED umo\u017E\u0148uj\u00EDc\u00ED indikovat p\u0159\u00EDmou enzymatickou nebo muta\u010Dn\u00ED anal\u00FDzu, v n\u011Bkter\u00FDch p\u0159\u00EDpadech dokonce bez nutnosti proveden\u00ED svalov\u00E9 biopsie." . . . "0069-2328" . "Vesel\u00E1, Kate\u0159ina" . "mitochondrial disorders; neonatal onset; lactic acidosis; hypertrophic cardiomyopathy; diagnostic algorithm"@en . . "Hans\u00EDkov\u00E1, Hana" . "Klinick\u00E9 p\u0159\u00EDznaky a laboratorn\u00ED data u 75 d\u011Bt\u00ED s neonat\u00E1ln\u00ED manifestac\u00ED mitochondri\u00E1ln\u00EDho onemocn\u011Bn\u00ED: n\u00E1vrh diagnostick\u00FDch algoritm\u016F"@cs . . "11110" . . "P(NS9759), P(NS9782)" . . "9"^^ . . "Je\u0161ina, Pavel" . "Mitochondri\u00E1ln\u00ED poruchy se mohou projevit v kter\u00E9mkoliv v\u011Bku, ale vysok\u00E9 energetick\u00E9 n\u00E1roky na poporodn\u00ED adaptaci novorozence predisponuj\u00ED k \u010Dasn\u00E9 neonat\u00E1ln\u00ED manifestaci. C\u00EDlem pr\u00E1ce je snaha analyzovat klinick\u00E9 a laboratorn\u00ED projevy mitochondri\u00E1ln\u00EDch onemocn\u011Bn\u00ED v novorozeneck\u00E9m v\u011Bku. Navr\u017Een\u00E9 algoritmy pomohou usnadnit jejich diagnostiku. Mitochondri\u00E1ln\u00ED porucha se klinicky manifestovala u 75 d\u011Bt\u00ED v novorozeneck\u00E9m v\u011Bku, co\u017E p\u0159edstavuje 21 % pacient\u016F s mitochondri\u00E1ln\u00EDm onemocn\u011Bn\u00EDm, kter\u00E9 jsme diagnostikovali na biochemick\u00E9 a/nebo molekul\u00E1rn\u011B genetick\u00E9 \u00FArovni na na\u0161em pracovi\u0161ti. Na z\u00E1klad\u011B na\u0161ich v\u00FDsledk\u016F byl p\u0159ipraven diagnostick\u00FD algoritmus pro kriticky nemocn\u00E9ho novorozence s podez\u0159en\u00EDm na mitochondri\u00E1ln\u00ED onemocn\u011Bn\u00ED umo\u017E\u0148uj\u00EDc\u00ED indikovat p\u0159\u00EDmou enzymatickou nebo muta\u010Dn\u00ED anal\u00FDzu, v n\u011Bkter\u00FDch p\u0159\u00EDpadech dokonce bez nutnosti proveden\u00ED svalov\u00E9 biopsie."@cs . . . "Honz\u00EDk, Tom\u00E1\u0161" . . "CZ - \u010Cesk\u00E1 republika" . "Klinick\u00E9 p\u0159\u00EDznaky a laboratorn\u00ED data u 75 d\u011Bt\u00ED s neonat\u00E1ln\u00ED manifestac\u00ED mitochondri\u00E1ln\u00EDho onemocn\u011Bn\u00ED: n\u00E1vrh diagnostick\u00FDch algoritm\u016F" . "266489" . . "Tesa\u0159ov\u00E1, Mark\u00E9ta" . "RIV/00216208:11110/10:6859!RIV11-MZ0-11110___" . "7-8" . "Klinick\u00E9 p\u0159\u00EDznaky a laboratorn\u00ED data u 75 d\u011Bt\u00ED s neonat\u00E1ln\u00ED manifestac\u00ED mitochondri\u00E1ln\u00EDho onemocn\u011Bn\u00ED: n\u00E1vrh diagnostick\u00FDch algoritm\u016F" . "Mitochondrial disorders may manifest at any age. High energetic demands associated with postnatal adaptation to extrauterinne life result in frequent onset of mitochondrial disorders in nenates. The aim of this study is to analyse clinical and laborato\u0159 characteristics of mitochondrial disorders with neonatal onset. Further, we would like to propose algorithms for diagnostics of neonatal mitochondrial disorders. Study group:Mitochondrial disordermanifested in 75 neonates,who comprise 21% of mitochondrial desease patients diagnosed on biochemical and/or molecular genetic level at our department. According our results the diagnostic algorithm for a critically ill newborn with suspicion of mitochondrial energetic metabolism defect was prepared. This algorithm also enables to indicate direct enzymatic or mutation analysis, either with no need of muscle biopsy in some cases."@en . "Magner, Martin" . . "Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms"@en . . . "8"^^ . "Klinick\u00E9 p\u0159\u00EDznaky a laboratorn\u00ED data u 75 d\u011Bt\u00ED s neonat\u00E1ln\u00ED manifestac\u00ED mitochondri\u00E1ln\u00EDho onemocn\u011Bn\u00ED: n\u00E1vrh diagnostick\u00FDch algoritm\u016F"@cs . . . "8"^^ . . "RIV/00216208:11110/10:6859" . . "65" . . "Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms"@en . "[D2A4449460DD]" .