Zobrazeno 1 - 3
of 3
pro vyhledávání: '"A M, Nedoboĭ"'
Autor:
N V, Ol'khovych, O M, Gryshchenko, N O, Pichkur, A M, Nedoboĭ, N S, Trofimova, T P, Ivanova, N G, Gorovenko
Publikováno v:
Likars'ka sprava. (1-2)
The analysis of efficiency of treatment of 17 patients with Gaucher disease (GD) in Ukraine who had received fermento-substitution therapy for 2 years and more was conducted on the basis of clinical and laboratory monitoring data. Regular infusions o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a875f4ac02c9d15130de474064a32ec
https://pubmed.ncbi.nlm.nih.gov/21954642
https://pubmed.ncbi.nlm.nih.gov/21954642
Publikováno v:
TSitologiia i genetika. 41(4)
The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42.3% alleles, mutation L444P was observed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b061e83a67aae137adeb7f0cb092e19
https://pubmed.ncbi.nlm.nih.gov/18030725
https://pubmed.ncbi.nlm.nih.gov/18030725
Autor:
N H, Horovenko, V D, Drozdova, A M, Nedoboĭ, N V, Ol'khovych, N O, Pichkur, M A, Tsyhankova, O V, Radzikhovs'ka
Publikováno v:
TSitologiia i genetika. 40(3)
Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gauc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9592bdd8f71a36d988e8f8b17f9448e7
https://pubmed.ncbi.nlm.nih.gov/16933855
https://pubmed.ncbi.nlm.nih.gov/16933855