. "2"^^ . . "RIV/00216208:11150/04:00004638!RIV08-MSM-11150___" . . . "\u010Cesko-slovensk\u00E1 pediatrie" . . "4"^^ . . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie (Brutonova nemoc) - t\u0159i kazuistiky a molekul\u00E1rn\u011B genetick\u00E9 studie jejich rodin" . . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie (Brutonova nemoc) - t\u0159i kazuistiky a molekul\u00E1rn\u011B genetick\u00E9 studie jejich rodin" . . . "59" . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie je prim\u00E1rn\u00ED imunodeficience, kter\u00E1 se projevuje z\u00E1va\u017En\u00FDmi infekcemi v \u010Dasn\u00E9m v\u011Bku. Vzhledem k dobr\u00FDm mo\u017Enostem komplexn\u00ED terapie, jej\u00EDm\u017E z\u00E1kladem je pod\u00E1v\u00E1n\u00ED imunoglobulinu, je pot\u0159eba stanovit diagn\u00F3zu \u010Dasn\u011B, p\u0159ed rozvojem chronick\u00FDch komplikac\u00ED. Jeliko\u017E m\u00E1 d\u011Bdi\u010Dn\u00FD z\u00E1klad, je vhodn\u00E9 nab\u00EDdnout vy\u0161et\u0159en\u00ED i rodinn\u00FDm p\u0159\u00EDslu\u0161n\u00EDk\u016Fm pacient\u016F. Na kazuistik\u00E1ch t\u0159\u00ED pacient\u016F ze dvou rodin auto\u0159i prezentuj\u00ED typick\u00E9 projevy a efekt terapie. V obou rodin\u00E1ch byly provedeny molekul\u00E1rn\u011B genetick\u00E9 studie, kter\u00E9 dokumentovaly nosi\u010Dstv\u00ED mutac\u00ED v BTK u sester pacient\u016F" . . "Pa\u0159\u00EDzkov\u00E1, Eva" . "0069-2328" . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie (Brutonova nemoc) - t\u0159i kazuistiky a molekul\u00E1rn\u011B genetick\u00E9 studie jejich rodin"@cs . "4"^^ . "S" . "X-linked Hypogammaglobulinaemia (Bruton\u00B4s Disease) - Three Case Studies and Molecular Genetic Studies in Their Families"@en . "CZ - \u010Cesk\u00E1 republika" . "Rozs\u00EDval, Pavel" . . . "11150" . . "RIV/00216208:11150/04:00004638" . "3" . . . . "119;122" . . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie (Brutonova nemoc) - t\u0159i kazuistiky a molekul\u00E1rn\u011B genetick\u00E9 studie jejich rodin"@cs . . . . "[F503F1FF5463]" . . "X-linked agammaglobulinaemia is a primary immune deficiency, which presents with severe infections early in life. Because of good results of complex therapy, which is based on immune globulin substitution, early diagnosis is imperative, before the development of chronic complications. Due to the inheritance of the disease, it is appropriate to offer genetic counselling and testing to the family members, too. In three \u010Dase studies of patients from two families, authors present typical features and effect of therapy. Molecular genetic studies in both of the families were carried out, confirming carriership in the patients' sisters."@en . "595316" . "X-linked; Hypogammaglobulinaemia; Bruton\u00B4s; Disease; Three; Studies; Molecular; Genetic; Studies; Their; Families"@en . . "X-v\u00E1zan\u00E1 hypogamaglobulin\u00E9mie je prim\u00E1rn\u00ED imunodeficience, kter\u00E1 se projevuje z\u00E1va\u017En\u00FDmi infekcemi v \u010Dasn\u00E9m v\u011Bku. Vzhledem k dobr\u00FDm mo\u017Enostem komplexn\u00ED terapie, jej\u00EDm\u017E z\u00E1kladem je pod\u00E1v\u00E1n\u00ED imunoglobulinu, je pot\u0159eba stanovit diagn\u00F3zu \u010Dasn\u011B, p\u0159ed rozvojem chronick\u00FDch komplikac\u00ED. Jeliko\u017E m\u00E1 d\u011Bdi\u010Dn\u00FD z\u00E1klad, je vhodn\u00E9 nab\u00EDdnout vy\u0161et\u0159en\u00ED i rodinn\u00FDm p\u0159\u00EDslu\u0161n\u00EDk\u016Fm pacient\u016F. Na kazuistik\u00E1ch t\u0159\u00ED pacient\u016F ze dvou rodin auto\u0159i prezentuj\u00ED typick\u00E9 projevy a efekt terapie. V obou rodin\u00E1ch byly provedeny molekul\u00E1rn\u011B genetick\u00E9 studie, kter\u00E9 dokumentovaly nosi\u010Dstv\u00ED mutac\u00ED v BTK u sester pacient\u016F"@cs . "X-linked Hypogammaglobulinaemia (Bruton\u00B4s Disease) - Three Case Studies and Molecular Genetic Studies in Their Families"@en .