"477176" . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc). Studie \u010Desk\u00FDch pacient\u016F a p\u0159ehled sou\u010Dasn\u00FDch n\u00E1zor\u016F na biologii a diferenci\u00E1ln\u00ED diagn\u00F3zu" . "FI - Finsk\u00E1 republika" . "3" . "Kraus, J." . . . "1210-7859" . "RIV/00216224:14110/06:00017792!RIV10-MSM-14110___" . "1"^^ . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc) je vz\u00E1cn\u00E9 demyeliniza\u010Dn\u00ED onemocn\u011Bn\u00ED postihuj\u00EDc\u00ED centr\u00E1ln\u00ED i perifern\u00ED myelin. Podstatou onemocn\u011Bn\u00ED je deficit aktivity lyzosom\u00E1ln\u00EDho enzymu galaktocerebrosid\u00E1zy. Podle v\u011Bku p\u0159i prvn\u00EDch klinick\u00FDch symptomech se rozli\u0161uj\u00ED 4 typy onemocn\u011Bn\u00ED: forma infantiln\u00ED a 3 formy s pozdn\u00EDm za\u010D\u00E1tkem (pozdn\u011B infantiln\u00ED, juveniln\u00ED, adultn\u00ED). C\u00EDlem pr\u00E1ce je uv\u00E9st p\u0159ehled \u010Desk\u00FDch pacient\u016F diagnostikovan\u00FDch b\u011Bhem 26 let. Soubor zahrnuje 14 pacient\u016F. 11 pacient\u016F m\u011Blo infantiln\u00ED formu, 2 pacienti pozdn\u011B infantiln\u00ED formu a 1 pacient adultn\u00ED formu. U pacient\u016F s infantiln\u00ED formou se do 6 m\u011Bs\u00EDc\u016F v\u011Bku vyskytly n\u00E1sleduj\u00EDc\u00ED p\u0159\u00EDznaky: retardace nebo regrese v\u00FDvoje (11/11), vysok\u00E1 dr\u00E1\u017Edivost (11/11), pot\u00ED\u017Ee s p\u0159\u00EDjmem stravy (8/11), zv\u00FD\u0161en\u00FD svalov\u00FD tonus (8/11) se sou\u010Dasn\u00FDm sn\u00ED\u017Een\u00EDm (6/11) i zv\u00FD\u0161en\u00EDm (1/11) \u0161lachosvalov\u00FDch reflex\u016F, spastick\u00E9 pyramidov\u00E9 jevy (7/11), k\u0159e\u010De (6/11), hore\u010Dky nejasn\u00E9 etiologie (3/11), ataky opistotonu (6/11), k\u0159ik bez zjevn\u00E9 p\u0159\u00ED\u010Diny (5/11), zvracen\u00ED (2/11)."@cs . . . . "[7F160A37E50B]" . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc). Studie \u010Desk\u00FDch pacient\u016F a p\u0159ehled sou\u010Dasn\u00FDch n\u00E1zor\u016F na biologii a diferenci\u00E1ln\u00ED diagn\u00F3zu"@cs . . "Ko\u0161\u0165\u00E1lov\u00E1, E." . "Elleder, M." . . . . "RIV/00216224:14110/06:00017792" . "9"^^ . "globoid leukodystrophy; Krabbe disease; galactocerebrosidase; demyelination"@en . "Globoid leukodystrophy (Krabbe disease) is a rare demyelinating disorder affecting both the central and peripheral myelin. The nature of the disease is deficient activity of lysosomal enzyme galactocerebrosidase. Based on the age at the first clinical symptoms, there are 4 types of the disease recognized: infantile form and 3 forms with later onset (late infantile, juvenile, adult). The report aimed at the survey of Czech patients diagnosed during 26 years. A set involves 14 patients. 11 of them had infantile form, 2 patients late infant form, and 1 patients adult form."@en . . . . "14110" . "Poup\u011Btov\u00E1, H." . . . . . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc). Studie \u010Desk\u00FDch pacient\u016F a p\u0159ehled sou\u010Dasn\u00FDch n\u00E1zor\u016F na biologii a diferenci\u00E1ln\u00ED diagn\u00F3zu"@cs . "P(NR8124), Z(MSM 111100003), Z(MSM0021622404), Z(MZ00000064165), Z(MZ0VFN2005)" . . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc). Studie \u010Desk\u00FDch pacient\u016F a p\u0159ehled sou\u010Dasn\u00FDch n\u00E1zor\u016F na biologii a diferenci\u00E1ln\u00ED diagn\u00F3zu" . "Globoidn\u00ED leukodystrofie (Krabbeho nemoc) je vz\u00E1cn\u00E9 demyeliniza\u010Dn\u00ED onemocn\u011Bn\u00ED postihuj\u00EDc\u00ED centr\u00E1ln\u00ED i perifern\u00ED myelin. Podstatou onemocn\u011Bn\u00ED je deficit aktivity lyzosom\u00E1ln\u00EDho enzymu galaktocerebrosid\u00E1zy. Podle v\u011Bku p\u0159i prvn\u00EDch klinick\u00FDch symptomech se rozli\u0161uj\u00ED 4 typy onemocn\u011Bn\u00ED: forma infantiln\u00ED a 3 formy s pozdn\u00EDm za\u010D\u00E1tkem (pozdn\u011B infantiln\u00ED, juveniln\u00ED, adultn\u00ED). C\u00EDlem pr\u00E1ce je uv\u00E9st p\u0159ehled \u010Desk\u00FDch pacient\u016F diagnostikovan\u00FDch b\u011Bhem 26 let. Soubor zahrnuje 14 pacient\u016F. 11 pacient\u016F m\u011Blo infantiln\u00ED formu, 2 pacienti pozdn\u011B infantiln\u00ED formu a 1 pacient adultn\u00ED formu. U pacient\u016F s infantiln\u00ED formou se do 6 m\u011Bs\u00EDc\u016F v\u011Bku vyskytly n\u00E1sleduj\u00EDc\u00ED p\u0159\u00EDznaky: retardace nebo regrese v\u00FDvoje (11/11), vysok\u00E1 dr\u00E1\u017Edivost (11/11), pot\u00ED\u017Ee s p\u0159\u00EDjmem stravy (8/11), zv\u00FD\u0161en\u00FD svalov\u00FD tonus (8/11) se sou\u010Dasn\u00FDm sn\u00ED\u017Een\u00EDm (6/11) i zv\u00FD\u0161en\u00EDm (1/11) \u0161lachosvalov\u00FDch reflex\u016F, spastick\u00E9 pyramidov\u00E9 jevy (7/11), k\u0159e\u010De (6/11), hore\u010Dky nejasn\u00E9 etiologie (3/11), ataky opistotonu (6/11), k\u0159ik bez zjevn\u00E9 p\u0159\u00ED\u010Diny (5/11), zvracen\u00ED (2/11)." . "Bedna\u0159\u00EDk, Josef" . "Globoid Leukodystrophy (Krabbe\u00B4s Disease). A Series of Czech Patients and a Survey of Current Views of Biology and Differential Diagnosis"@en . . "Globoid Leukodystrophy (Krabbe\u00B4s Disease). A Series of Czech Patients and a Survey of Current Views of Biology and Differential Diagnosis"@en . . . "Zumrov\u00E1, A." . "Hada\u010D, J." . "Zeman, J." . "11"^^ . "69/102" . "Nev\u0161\u00EDmalov\u00E1, S." . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . .