. "75" . . . "I, P(NT12239)" . "http://www.csnn.eu/ceska-slovenska-neurologie-clanek/diagnostika-a-moznosti-lecby-niemann-pickovy-choroby-typ-c-38118" . "Diagnostika a mo\u017Enosti l\u00E9\u010Dby Niemann-Pickovy choroby typ C"@cs . "5"^^ . "[DF744EF45E56]" . . "RIV/00216208:11110/12:12477" . "Diagnostika a mo\u017Enosti l\u00E9\u010Dby Niemann-Pickovy choroby typ C" . . . "H\u016Flkov\u00E1, Helena" . . "Niemann-Pick disease type C; unesterified cholesterol; NPC1 gene; NPC2 gene; miglustat; cyclodextrin; identification; trafficking; miglustat; therapy; defect"@en . . . . "Diagnosis and Treatment Options for Niemann-Pick Disease Type C"@en . "CZ - \u010Cesk\u00E1 republika" . "Niemann-Pick disease type C is an autosomal recessive lysosomal disorder clinically characterized by age-specific symptomatology with possible manifestation any time from neonatal age to late adulthood. Except for its neonatal form with cholestasis, respiratory failure and hepatosplenomegaly, the disease presents as a neurodegenerative disorder, frequently with splenomegaly. Pathophysiology involves dysfunction of the late endosome/lysosome membraneous system with accumulation of unesterified cholesterol and glycosphingolipids due to mutations in the NPC1 and NPC2 genes coding the corresponding lysosomal proteins. Results of clinical examination must be confirmed by specific loading tests in cultivated fibroblasts and/or molecular genetic analysis of the concerned genes. In the last years the disease is treated with a reversible glucosylceramide synthase inhibitor miglustat, potentially stabilizing its course. Recently, clinical testing of cyclodextrin has been initiated. In the Czech Republic, comprehensive diagnostics is available at The Institute of Inherited Metabolic Disorders (67 confirmed patients including 42 Czechs)."@en . . "11110" . . "4"^^ . "Je\u0161ina, Pavel" . "Jahnov\u00E1, Helena" . . . . . "Diagnosis and Treatment Options for Niemann-Pick Disease Type C"@en . "6"^^ . "Diagnostika a mo\u017Enosti l\u00E9\u010Dby Niemann-Pickovy choroby typ C" . "1210-7859" . "130978" . . "RIV/00216208:11110/12:12477!RIV13-MZ0-11110___" . . . "H\u0159eb\u00ED\u010Dek, Martin" . . "Niemann-Pickova choroba typ C je autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 lysozom\u00E1ln\u00ED onemocn\u011Bn\u00ED, klinicky charakterizovan\u00E9 v\u011Bkov\u011B specifickou symptomatologi\u00ED, s mo\u017Enost\u00ED manifestace od novorozeneck\u00E9ho v\u011Bku do pozdn\u00ED dosp\u011Blosti. S v\u00FDjimkou neonat\u00E1ln\u00ED formy s cholest\u00E1zou, respira\u010Dn\u00EDm selh\u00E1n\u00EDm a hepatosplenomegali\u00ED jde v dal\u0161\u00EDch v\u011Bkov\u00FDch kategori\u00EDch o nemoc vysloven\u011B neurodegenerativn\u00ED, \u010Dasto doprov\u00E1zenou splenomegali\u00ED. P\u0159\u00ED\u010Dinou je funk\u010Dn\u00ED porucha membr\u00E1nov\u00E9ho syst\u00E9mu pozdn\u00EDho endozomu/lysozomu s akumulac\u00ED neesterifikovan\u00E9ho cholesterolu a glykosfingolipid\u016F v d\u016Fsledku mutac\u00ED v genech NPC1 (95 % p\u0159\u00EDpad\u016F) nebo NPC2 (5 % p\u0159\u00EDpad\u016F), k\u00F3duj\u00EDc\u00EDch lysozom\u00E1ln\u00ED membr\u00E1nov\u00FD protein NPC1 a solubiln\u00ED protein NPC2. Z\u00E1kladem diagnostiky je spr\u00E1vn\u00E9 zhodnocen\u00ED klinick\u00FDch symptom\u016F s p\u0159ihl\u00E9dnut\u00EDm k v\u011Bku nemocn\u00E9ho. Podez\u0159en\u00ED potvrd\u00ED specifick\u00E9 testy v tk\u00E1\u0148ov\u00E9 kultu\u0159e fibroblast\u016F a/nebo molekul\u00E1rn\u011B genetick\u00E1 anal\u00FDza uveden\u00FDch gen\u016F. Aktu\u00E1ln\u00ED mo\u017Enost l\u00E9\u010Dby spo\u010D\u00EDv\u00E1 v pod\u00E1v\u00E1n\u00ED reverzibiln\u00EDho inhibitoru glukosylceramidsynt\u00E1zy (miglustat), potenci\u00E1ln\u011B stabilizuj\u00EDc\u00EDho pr\u016Fb\u011Bh nemoci, experiment\u00E1ln\u011B slibn\u00E1 aplikace cyklodextrinu vstupuje do f\u00E1ze klinick\u00E9ho testov\u00E1n\u00ED. Komplexn\u00ED diagnostika je v \u010CR dostupn\u00E1 prost\u0159ednictv\u00EDm \u00DAstavu d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch (diagn\u00F3za stanovena u 67 pacient\u016F, z toho 42 \u010Desk\u00FDch)." . . . "3" . . . . "Diagnostika a mo\u017Enosti l\u00E9\u010Dby Niemann-Pickovy choroby typ C"@cs . "Niemann-Pickova choroba typ C je autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 lysozom\u00E1ln\u00ED onemocn\u011Bn\u00ED, klinicky charakterizovan\u00E9 v\u011Bkov\u011B specifickou symptomatologi\u00ED, s mo\u017Enost\u00ED manifestace od novorozeneck\u00E9ho v\u011Bku do pozdn\u00ED dosp\u011Blosti. S v\u00FDjimkou neonat\u00E1ln\u00ED formy s cholest\u00E1zou, respira\u010Dn\u00EDm selh\u00E1n\u00EDm a hepatosplenomegali\u00ED jde v dal\u0161\u00EDch v\u011Bkov\u00FDch kategori\u00EDch o nemoc vysloven\u011B neurodegenerativn\u00ED, \u010Dasto doprov\u00E1zenou splenomegali\u00ED. P\u0159\u00ED\u010Dinou je funk\u010Dn\u00ED porucha membr\u00E1nov\u00E9ho syst\u00E9mu pozdn\u00EDho endozomu/lysozomu s akumulac\u00ED neesterifikovan\u00E9ho cholesterolu a glykosfingolipid\u016F v d\u016Fsledku mutac\u00ED v genech NPC1 (95 % p\u0159\u00EDpad\u016F) nebo NPC2 (5 % p\u0159\u00EDpad\u016F), k\u00F3duj\u00EDc\u00EDch lysozom\u00E1ln\u00ED membr\u00E1nov\u00FD protein NPC1 a solubiln\u00ED protein NPC2. Z\u00E1kladem diagnostiky je spr\u00E1vn\u00E9 zhodnocen\u00ED klinick\u00FDch symptom\u016F s p\u0159ihl\u00E9dnut\u00EDm k v\u011Bku nemocn\u00E9ho. Podez\u0159en\u00ED potvrd\u00ED specifick\u00E9 testy v tk\u00E1\u0148ov\u00E9 kultu\u0159e fibroblast\u016F a/nebo molekul\u00E1rn\u011B genetick\u00E1 anal\u00FDza uveden\u00FDch gen\u016F. Aktu\u00E1ln\u00ED mo\u017Enost l\u00E9\u010Dby spo\u010D\u00EDv\u00E1 v pod\u00E1v\u00E1n\u00ED reverzibiln\u00EDho inhibitoru glukosylceramidsynt\u00E1zy (miglustat), potenci\u00E1ln\u011B stabilizuj\u00EDc\u00EDho pr\u016Fb\u011Bh nemoci, experiment\u00E1ln\u011B slibn\u00E1 aplikace cyklodextrinu vstupuje do f\u00E1ze klinick\u00E9ho testov\u00E1n\u00ED. Komplexn\u00ED diagnostika je v \u010CR dostupn\u00E1 prost\u0159ednictv\u00EDm \u00DAstavu d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch (diagn\u00F3za stanovena u 67 pacient\u016F, z toho 42 \u010Desk\u00FDch)."@cs . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . "Dvo\u0159\u00E1kov\u00E1, Lenka" . "000305819900005" . . .