Zobrazeno 1 - 10
of 15
pro vyhledávání: '"N O Pichkur"'
Publikováno v:
Medična Informatika ta Inženerìâ, Iss 2, Pp 44-51 (2018)
Представлено особливості розроблення концептуальної моделі для раннього діагностування спадкових орфанних захворювань. Наведено ряд
Externí odkaz:
https://doaj.org/article/f19b1a76354f4f76880975d73dc1702f
Autor:
V. Z. Stetsiuk, O. I. Lisovychenko, A. V. Maliei, O. D. Finogenov, N. V. Olhovich, N. O. Pichkur
Publikováno v:
Medična Informatika ta Inženerìâ, Iss 4 (2018)
У статті розглядається можливість автоматизованого застосування протоколів раннього діагностування в пацієнтів спадкових метаболічн
Externí odkaz:
https://doaj.org/article/75cb0efc404441918fae3d1b2df2c168
Publikováno v:
CHILD`S HEALTH. 12:788-796
Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its main clinical and laboratory characteristics based on the results of laboratory and instrumental studies that allow to select such patients into the sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::771c2a08864789c03b88ad64d2e2de7e
https://doi.org/10.22141/2224-0551.12.7.2017.116184
https://doi.org/10.22141/2224-0551.12.7.2017.116184
Autor:
N. O. Pichkur
Publikováno v:
Український Журнал Нефрології та Діалізу, Iss 3(39) (2017)
The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs. The diagnosis was found in nine years old boy with
Externí odkaz:
https://doaj.org/article/c1550ad15bbf486f989340e52e532431
Autor:
N O. Pichkur
Publikováno v:
Український Журнал Нефрології та Діалізу, Iss 4(56) (2017)
The aim of the study was to determine the clinical features and molecular genetic patterns of patients with Fabry disease (FD) to optimize the diagnostic stepwise. Object and methods. The comparison of clinical features was performed and the activ
Externí odkaz:
https://doaj.org/article/ea1aa361383b45709ad4fb871d3c96ff
Publikováno v:
Medična Informatika ta Inženerìâ, Iss 2, Pp 44-51 (2018)
Представлено особливості розроблення концептуальної моделі для раннього діагностування спадкових орфанних захворювань. Наведено ряд
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44660d3301c363b69e35440b4dacfab9
https://ojs.tdmu.edu.ua/index.php/here/article/view/9293
https://ojs.tdmu.edu.ua/index.php/here/article/view/9293
Autor:
A. V. Maliei, N. V. Olhovich, O. I. Lisovychenko, V. Z. Stetsiuk, N. O. Pichkur, O. D. Finogenov
Publikováno v:
Medična Informatika ta Inženerìâ, Iss 4 (2018)
The article deals with the possibility of automated application of protocols for early diagnosis in patients with hereditary metabolic diseases. An improvement in diseases diagnosing algorithm with regard to the computing speed is proposed. A method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f36a873fec3b3d750a5f38eefc6ae1b
https://doi.org/10.11603/mie.1996-1960.2017.4.8453
https://doi.org/10.11603/mie.1996-1960.2017.4.8453
Publikováno v:
Cytology and Genetics. 41:230-236
A molecular-genetics investigation is conducted on 27 patients from 26 families. Common mutations in the GBA gene (N370S, L444P, and 84GG) are studied. The overall frequency of the common mutations is nearly 58%, with the percentage of alleles that c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abc9def72d102f7d919fb7daca37af76
https://doi.org/10.3103/s009545270704007x
https://doi.org/10.3103/s009545270704007x
Autor:
N. O. Pichkur
Publikováno v:
Bulletin of Problems Biology and Medicine. :156
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f26005bd7788616fcd9857902774748c
https://doi.org/10.29254/2077-4214-2018-1-1-142-156-162
https://doi.org/10.29254/2077-4214-2018-1-1-142-156-162
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