"1"^^ . . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za (PFIC) je souhrnn\u00E9 ozna\u010Den\u00ED pro heterogenn\u00ED skupinu autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00FDch onemocn\u011Bn\u00ED d\u011Btsk\u00E9ho v\u011Bku podm\u00EDn\u011Bn\u00FDch mutacemi v genech k\u00F3duj\u00EDc\u00EDch kanalikul\u00E1rn\u00ED proteiny odpov\u011Bdn\u00E9 za tvorbu \u017Elu\u010De. Podle typu mutace rozezn\u00E1v\u00E1me 3 formy PFIC (PFIC1-3). PFIC1 a PFIC2 se manifestuj\u00ED obvykle v novorozeneck\u00E9m a kojeneck\u00E9m v\u011Bku, PFIC3 pak v pr\u016Fb\u011Bhu cel\u00E9ho d\u011Btsk\u00E9ho v\u011Bku, vz\u00E1cn\u011B a\u017E u dosp\u011Bl\u00FDch." . "[7AB19D046374]" . "CZ - \u010Cesk\u00E1 republika" . . "1"^^ . . "D\u011Bdek, Petr" . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za" . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za" . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za"@cs . "RIV/00179906:_____/10:10025274" . "65" . . . . . "Cholestasis; Intrahepatic; Familial; Progressive"@en . . "RIV/00179906:_____/10:10025274!RIV11-MZ0-00179906" . "Progressive Familial Intrahepatic Cholestasis"@en . "Cesko-Slovenska Pediatrie" . . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za"@cs . "Progressive Familial Intrahepatic Cholestasis"@en . . . . "0069-2328" . . . "9"^^ . "282714" . "4" . "V" . . "Progresivn\u00ED famili\u00E1rn\u00ED intrahepat\u00E1ln\u00ED cholest\u00E1za (PFIC) je souhrnn\u00E9 ozna\u010Den\u00ED pro heterogenn\u00ED skupinu autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00FDch onemocn\u011Bn\u00ED d\u011Btsk\u00E9ho v\u011Bku podm\u00EDn\u011Bn\u00FDch mutacemi v genech k\u00F3duj\u00EDc\u00EDch kanalikul\u00E1rn\u00ED proteiny odpov\u011Bdn\u00E9 za tvorbu \u017Elu\u010De. Podle typu mutace rozezn\u00E1v\u00E1me 3 formy PFIC (PFIC1-3). PFIC1 a PFIC2 se manifestuj\u00ED obvykle v novorozeneck\u00E9m a kojeneck\u00E9m v\u011Bku, PFIC3 pak v pr\u016Fb\u011Bhu cel\u00E9ho d\u011Btsk\u00E9ho v\u011Bku, vz\u00E1cn\u011B a\u017E u dosp\u011Bl\u00FDch."@cs . "The term progressive familial intrahepatic cholestasis (PFIC) represents complex designation for a heterogeneous group of diseases developing due to mutations in genes coding canalicular proteins associated with the bile production. According to specific mutation we can distinguish 3 types of PFIC (PFIC1-3). PFIC1 and PFIC2 usually appear during the first months of the life; PFIC3 appears much later - during the whole childhood and rarely even in adults."@en .