"\u010Ceskoslovensk\u00E1 pediatrie" . "Hornychov\u00E1, Helena" . . "Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn"@en . . . . . "I" . "RIV/00216208:11150/13:10139382" . "ABCA3 mutations; surfactant deficiency; newborn"@en . . "Kongenit\u00E1ln\u00ED deficit surfaktantu v d\u016Fsledku mutace v genu pro ABCA3 jako p\u0159\u00ED\u010Dina fat\u00E1ln\u00EDho respira\u010Dn\u00EDho selh\u00E1n\u00ED" . . "11150" . "Vrozen\u00E9 poruchy metabolismu surfaktantu se manifestuj\u00ED jako akutn\u00ED z\u00E1va\u017En\u00E1 respira\u010Dn\u00ED selh\u00E1n\u00ED v novorozeneck\u00E9m obdob\u00ED, nebo jako chronick\u00E1 respira\u010Dn\u00ED insuficience v kojeneck\u00E9m a d\u011Btsk\u00E9m v\u011Bku. Popisujeme prvn\u00ED p\u0159\u00EDpad dono\u0161en\u00E9ho novorozence v \u010Cesk\u00E9 republice s geneticky prok\u00E1zan\u00FDm deficitem surfaktantu vedouc\u00EDm k let\u00E1ln\u00EDmu respira\u010Dn\u00EDmu selh\u00E1n\u00ED. Z\u00E1rove\u0148 jde celosv\u011Btov\u011B o prvn\u00ED pr\u016Fkaz heterozygotn\u00EDch mutac\u00ED M 1227R v exonu 24 a Ins1510fs/ter1519 v exonu 29 v ABCA3 genu."@cs . . "4"^^ . "RIV/00216208:11150/13:10139382!RIV14-MSM-11150___" . "[478F1971B5FC]" . "http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=2583cc8a-1972-4a6d-a268-7490ac0714f2%40sessionmgr15&vid=2&hid=14" . . "Kongenit\u00E1ln\u00ED deficit surfaktantu v d\u016Fsledku mutace v genu pro ABCA3 jako p\u0159\u00ED\u010Dina fat\u00E1ln\u00EDho respira\u010Dn\u00EDho selh\u00E1n\u00ED"@cs . "68" . "3"^^ . . . . "Navr\u00E1tilov\u00E1, Martina" . "Kongenit\u00E1ln\u00ED deficit surfaktantu v d\u016Fsledku mutace v genu pro ABCA3 jako p\u0159\u00ED\u010Dina fat\u00E1ln\u00EDho respira\u010Dn\u00EDho selh\u00E1n\u00ED" . "Vrozen\u00E9 poruchy metabolismu surfaktantu se manifestuj\u00ED jako akutn\u00ED z\u00E1va\u017En\u00E1 respira\u010Dn\u00ED selh\u00E1n\u00ED v novorozeneck\u00E9m obdob\u00ED, nebo jako chronick\u00E1 respira\u010Dn\u00ED insuficience v kojeneck\u00E9m a d\u011Btsk\u00E9m v\u011Bku. Popisujeme prvn\u00ED p\u0159\u00EDpad dono\u0161en\u00E9ho novorozence v \u010Cesk\u00E9 republice s geneticky prok\u00E1zan\u00FDm deficitem surfaktantu vedouc\u00EDm k let\u00E1ln\u00EDmu respira\u010Dn\u00EDmu selh\u00E1n\u00ED. Z\u00E1rove\u0148 jde celosv\u011Btov\u011B o prvn\u00ED pr\u016Fkaz heterozygotn\u00EDch mutac\u00ED M 1227R v exonu 24 a Ins1510fs/ter1519 v exonu 29 v ABCA3 genu." . "0069-2328" . . . "Kok\u0161tein, Zden\u011Bk" . "Kongenit\u00E1ln\u00ED deficit surfaktantu v d\u016Fsledku mutace v genu pro ABCA3 jako p\u0159\u00ED\u010Dina fat\u00E1ln\u00EDho respira\u010Dn\u00EDho selh\u00E1n\u00ED"@cs . . "Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn"@en . "3" . . "83279" . . "Mal\u00FD, Jan" . "6"^^ . "CZ - \u010Cesk\u00E1 republika" . "Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure. This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene - in exon 24 M 1227R and in exon 29Ins1510fs/ter1519 have never been published yet."@en .