"6" . . "CZ - \u010Cesk\u00E1 republika" . . "Inherited metabolit disorders; mucopolysaccharidosis; glycosaminoglycans; multiple dysostosis"@en . "I, Z(MZ0VFN2005)" . "Mucopolysacharidosis"@en . "Mucopolysacharidosis"@en . . . . "RIV/00064165:_____/11:9916" . "Mukopolysacharid\u00F3zy"@cs . "[5103EB3EE2FC]" . . "Mukopolysacharid\u00F3zy" . "Mucopolysaccharidosis are genetically caused large group of clinically severe and progressive multisystem diseases that belong to groups of lysosomal storage diseases. Enzyme dysfuntions involved in degradation of glycosaminoglycans lead to progressive accumulation of glycosaminoglycans in cells with subsequent morphological and functional changes in tissues. Clinical manifestations in patients with mucopolysaccharidosis are very heterogeneous and varying degrees aff ect almost all tissues. Diagnosis is based on clinical suspicion and increased excretion glycosaminoglycans in the urine, but the specifi c type of disease is established on enzymatic and molecular genetic level. Therapy depends on the type of the disease. In patients with mucopolysaccharidosis I, II, IV, VI is available causal treatment with enzyme replacement therapy, in patients with more severe mucopolysaccharidosis I and mucopolysaccharidosis VI and VII is indicated transplantation of hematopoietic stem cells and in patients with mucopolysaccharidosis III is tested substrate reduction therapy."@en . . . . . . "7"^^ . . . "Mukopolysacharid\u00F3zy p\u0159edstavuj\u00ED geneticky podm\u00EDn\u011Bnou velkou skupinu klinicky z\u00E1va\u017En\u00FDch a postupn\u011B progreduj\u00EDc\u00EDch multisyst\u00E9mov\u00FDch onemocn\u011Bn\u00ED, kter\u00E1 se \u0159ad\u00ED mezi lysosom\u00E1ln\u00ED onemocn\u011Bn\u00ED se st\u0159\u00E1d\u00E1n\u00EDm. Porucha funkce enzym\u016F nezbytn\u00FDch pro degradaci glykosaminoglykan\u016F vede k postupn\u00E9mu hromad\u011Bn\u00ED glykosaminoglykan\u016F v bu\u0148k\u00E1ch a n\u00E1sledn\u00FDm morfologick\u00FDm i funk\u010Dn\u00EDm zm\u011Bn\u00E1m tk\u00E1n\u00ED. Klinick\u00E9 projevy mukopolysacharid\u00F3zy jsou velice heterogenn\u00ED a postihuj\u00ED r\u016Fznou m\u011Brou tak\u0159ka v\u0161echny tk\u00E1n\u011B. Diagn\u00F3za je zalo\u017Eena na klinick\u00E9m podez\u0159en\u00ED a pr\u016Fkazu zv\u00FD\u0161en\u00E9ho mno\u017Estv\u00ED glykosaminoglykan\u016F vylou\u010Den\u00FDch v mo\u010Di, ale konkr\u00E9tn\u00ED typ onemocn\u011Bn\u00ED je nutno stanovit na enzymatick\u00E9 a molekul\u00E1rn\u011B genetick\u00E9 \u00FArovni. L\u00E9\u010Dba z\u00E1vis\u00ED na typu onemocn\u011Bn\u00ED. Pro pacienty s mukopolysacharid\u00F3zou I., II., IV. a VI. typu je dostupn\u00E1 kauz\u00E1ln\u00ED l\u00E9\u010Dba pomoc\u00ED enzymov\u00E9 substitu\u010Dn\u00ED terapie, u pacient\u016F s t\u011B\u017E\u0161\u00ED formou mukopolysacharid\u00F3zy I. typu a mukopolysacharid\u00F3zou VI. a VII. typu se uplat\u0148uje l\u00E9\u010Dba pomoc\u00ED transplantace hematopoetick\u00FDmi kmenov\u00FDmi bu\u0148kami a u pacient\u016F s mukopolysacharid\u00F3zou III. typu se zkou\u0161\u00ED substr\u00E1t reduk\u010Dn\u00ED terapie."@cs . "12" . "Mukopolysacharid\u00F3zy"@cs . "1212-9445" . . "Mukopolysacharid\u00F3zy p\u0159edstavuj\u00ED geneticky podm\u00EDn\u011Bnou velkou skupinu klinicky z\u00E1va\u017En\u00FDch a postupn\u011B progreduj\u00EDc\u00EDch multisyst\u00E9mov\u00FDch onemocn\u011Bn\u00ED, kter\u00E1 se \u0159ad\u00ED mezi lysosom\u00E1ln\u00ED onemocn\u011Bn\u00ED se st\u0159\u00E1d\u00E1n\u00EDm. Porucha funkce enzym\u016F nezbytn\u00FDch pro degradaci glykosaminoglykan\u016F vede k postupn\u00E9mu hromad\u011Bn\u00ED glykosaminoglykan\u016F v bu\u0148k\u00E1ch a n\u00E1sledn\u00FDm morfologick\u00FDm i funk\u010Dn\u00EDm zm\u011Bn\u00E1m tk\u00E1n\u00ED. Klinick\u00E9 projevy mukopolysacharid\u00F3zy jsou velice heterogenn\u00ED a postihuj\u00ED r\u016Fznou m\u011Brou tak\u0159ka v\u0161echny tk\u00E1n\u011B. Diagn\u00F3za je zalo\u017Eena na klinick\u00E9m podez\u0159en\u00ED a pr\u016Fkazu zv\u00FD\u0161en\u00E9ho mno\u017Estv\u00ED glykosaminoglykan\u016F vylou\u010Den\u00FDch v mo\u010Di, ale konkr\u00E9tn\u00ED typ onemocn\u011Bn\u00ED je nutno stanovit na enzymatick\u00E9 a molekul\u00E1rn\u011B genetick\u00E9 \u00FArovni. L\u00E9\u010Dba z\u00E1vis\u00ED na typu onemocn\u011Bn\u00ED. Pro pacienty s mukopolysacharid\u00F3zou I., II., IV. a VI. typu je dostupn\u00E1 kauz\u00E1ln\u00ED l\u00E9\u010Dba pomoc\u00ED enzymov\u00E9 substitu\u010Dn\u00ED terapie, u pacient\u016F s t\u011B\u017E\u0161\u00ED formou mukopolysacharid\u00F3zy I. typu a mukopolysacharid\u00F3zou VI. a VII. typu se uplat\u0148uje l\u00E9\u010Dba pomoc\u00ED transplantace hematopoetick\u00FDmi kmenov\u00FDmi bu\u0148kami a u pacient\u016F s mukopolysacharid\u00F3zou III. typu se zkou\u0161\u00ED substr\u00E1t reduk\u010Dn\u00ED terapie." . "Je\u0161ina, Pavel" . "Medic\u00EDna po promoci" . . . "Zeman, Ji\u0159\u00ED" . "Mukopolysacharid\u00F3zy" . "214164" . "2"^^ . . . "2"^^ . . "RIV/00064165:_____/11:9916!RIV12-MZ0-00064165" .