Zobrazeno 1 - 3
of 3
pro vyhledávání: '"А. L. Khoreva"'
Autor:
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina
Publikováno v:
Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to
Externí odkaz:
https://doaj.org/article/f66c1aefc43645eeae9a70d9f988db5e
Autor:
А. L. Khoreva, D.M. Konovalov, G.A. Novichkova, О. М. Laba, Yu.A. Rodina, N. Yu. Kan, М. Е. Leonteva, O.A. Shvets, D.S. Abramov, Anna Mukhina, V.I. Burlakov, A. P. Scherbakov, E.A. Deordieva, G. V. Tereshchenko, А. А. Roppelt, Z. А. Nesterenko, А. L. Kozlova, D.V. Yukhacheva, М. V. Pisareva, N.B. Kuzmenko
Publikováno v:
Pediatric Hematology/Oncology and Immunopathology. 20:132-139
The article is devoted to an extremely rare variant of type I interferonopathies associated with a homozygous gain of function (GOF) mutation in the STAT2 gene in a 5-year-old child. This genetic defect was first described in 2019, and so far only 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac1179a2fd771ed6c14ca5b17771d004
https://doi.org/10.24287/1726-1708-2021-20-3-132-139
https://doi.org/10.24287/1726-1708-2021-20-3-132-139
Autor:
А. N. Remizov, Yu. V. Kotova, А. А. Mukhina, E. V. Raykina, Е. I. Каlashnikova, Yu. А. Rodina, L. N. Igisheva, N. V. Martynova, О. V. Barabanova, A. L. Kozlova, S. А. Dibirova, М. А. Kurnikova, N. B. Kuzmenko, G. А. Novichkova, А. L. Khoreva, T. V. Varlamova, V. O. Bludova, А. Yu. Shcherbina, О. V. Zhogova, G. V. Tereshchenko, V. I. Burlakov, А. А. Roppelt, А. А. Moiseeva, S. B. Zimin
Publikováno v:
Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)
The aimof this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024cdf22b9aa3020940f712fe63f59a0
https://doi.org/10.47360/1995-4484-2021-326-334
https://doi.org/10.47360/1995-4484-2021-326-334