"V\u00FDznam \u010Dasn\u00E9 diagnostiky d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch s manifestac\u00ED v novorozeneck\u00E9m v\u011Bku" . "Magner, Martin" . . . "Je\u0161ina, Pavel" . . "116737" . "Vobruba, V\u00E1clav" . "0069-2328" . . "RIV/00064165:_____/13:10192328!RIV14-MZ0-00064165" . . "V pr\u00E1ci jsou uvedeny kazuistiky t\u0159\u00ED d\u011Bt\u00ED, u kter\u00FDch se d\u011Bdi\u010Dn\u00E9 metabolick\u00E9 onemocn\u011Bn\u00ED manifestovalo v novorozeneck\u00E9m v\u011Bku a stanoven\u00ED diagn\u00F3zy bylo pozdn\u00ED. Naopak \u010Dasn\u00E9 ur\u010Den\u00ED diagn\u00F3zy u dal\u0161\u00EDch dvou d\u011Bt\u00ED znamenalo pro d\u00EDt\u011B s galaktosemi\u00ED p\u0159\u00EDznivou progn\u00F3zu do budoucnosti a v p\u0159\u00EDpad\u011B d\u00EDt\u011Bte s deficitem alfa-1-antitrypsinu umo\u017Enilo zah\u00E1jen\u00ED odpov\u00EDdaj\u00EDc\u00ED terapie. \u010Casn\u00E9 ur\u010Den\u00ED diagn\u00F3zy potenci\u00E1ln\u011B l\u00E9\u010Diteln\u00E9 DMP m\u00E1 na dal\u0161\u00ED progn\u00F3zu d\u00EDt\u011Bte zcela z\u00E1sadn\u00ED vliv."@cs . . "neonatal age; Importance early diagnostics inherited metabolic disorders"@en . "RIV/00064165:_____/13:10192328" . . "68" . "Zeman, Ji\u0159\u00ED" . "Importance of early diagnostics of inherited metabolic disorders in neonatal age"@en . "9"^^ . "[CB6FA0DF1957]" . "Loren\u010D\u00EDk, David" . "V pr\u00E1ci jsou uvedeny kazuistiky t\u0159\u00ED d\u011Bt\u00ED, u kter\u00FDch se d\u011Bdi\u010Dn\u00E9 metabolick\u00E9 onemocn\u011Bn\u00ED manifestovalo v novorozeneck\u00E9m v\u011Bku a stanoven\u00ED diagn\u00F3zy bylo pozdn\u00ED. Naopak \u010Dasn\u00E9 ur\u010Den\u00ED diagn\u00F3zy u dal\u0161\u00EDch dvou d\u011Bt\u00ED znamenalo pro d\u00EDt\u011B s galaktosemi\u00ED p\u0159\u00EDznivou progn\u00F3zu do budoucnosti a v p\u0159\u00EDpad\u011B d\u00EDt\u011Bte s deficitem alfa-1-antitrypsinu umo\u017Enilo zah\u00E1jen\u00ED odpov\u00EDdaj\u00EDc\u00ED terapie. \u010Casn\u00E9 ur\u010Den\u00ED diagn\u00F3zy potenci\u00E1ln\u011B l\u00E9\u010Diteln\u00E9 DMP m\u00E1 na dal\u0161\u00ED progn\u00F3zu d\u00EDt\u011Bte zcela z\u00E1sadn\u00ED vliv." . . . "\u010Ceskoslovensk\u00E1 pediatrie" . "Case reports of three children with manifestation of IMD in neonatal age and late diagnosis are presented. On contrary, assessment of early diagnosis saved favourable prognosis of the child with galactosemia and enabled the early introduction of adequate therapy in a child with alpha-1-antitrypsin deficit. Early assessment of diagnosis of potentially treatable IMD plays an enourmous role in further prognosis of the child."@en . "Klement, Petr" . . . "V\u00FDznam \u010Dasn\u00E9 diagnostiky d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch s manifestac\u00ED v novorozeneck\u00E9m v\u011Bku"@cs . "I, P(NT11186)" . . "http://www.prolekare.cz/linkout/39973" . . "Importance of early diagnostics of inherited metabolic disorders in neonatal age"@en . . "7"^^ . . . "V\u00FDznam \u010Dasn\u00E9 diagnostiky d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch s manifestac\u00ED v novorozeneck\u00E9m v\u011Bku" . "7"^^ . "CZ - \u010Cesk\u00E1 republika" . "Honz\u00EDk, Tom\u00E1\u0161" . . . . . "1" . . . "V\u00FDznam \u010Dasn\u00E9 diagnostiky d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch s manifestac\u00ED v novorozeneck\u00E9m v\u011Bku"@cs .