Please use this identifier to cite or link to this item: http://hdl.handle.net/10995/103046
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dc.contributor.authorDeryabina, S. S.en
dc.contributor.authorTuzankina, I. A.en
dc.contributor.authorVlasova, E. V.en
dc.contributor.authorBolkov, M. A.en
dc.contributor.authorShershnev, V. N.en
dc.date.accessioned2021-08-31T15:07:06Z-
dc.date.available2021-08-31T15:07:06Z-
dc.date.issued2017-
dc.identifier.citationNeonatal screening for severe combined immune deficiency in Russia: Glorious future or tomorrow's reality? / S. S. Deryabina, I. A. Tuzankina, E. V. Vlasova, et al. — DOI 10.15690/vsp.v16i1.1696 // Voprosy Sovremennoi Pediatrii - Current Pediatrics. — 2017. — Vol. 16. — Iss. 1. — P. 59-66.en
dc.identifier.issn16825527-
dc.identifier.otherFinal2
dc.identifier.otherAll Open Access, Gold3
dc.identifier.otherhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85102430102&doi=10.15690%2fvsp.v16i1.1696&partnerID=40&md5=a7f27407f63399cabb8a3b02fce1df35
dc.identifier.otherhttps://vsp.spr-journal.ru/jour/article/download/1732/683m
dc.identifier.urihttp://hdl.handle.net/10995/103046-
dc.description.abstractMass screening of newborns in Russia for five hereditary diseases does not meet the requirements of the world community for the neonatal screening program. Success in the development of laboratory diagnostic technologies and active introduction of achievements in genetics and molecular biology into medical practice allow for the revision of the list of nosologies included in the national neonatal screening program by replacing the disease or adding new nosologies. The article discusses the possibility of including genetic testing for severe combined immune deficiency in the Newborn Screening Program in Russia. The results from a retrospective study of markers of naive T- and B-lymphocytes (TREC and KREC) in the group of children with immuno-dependent pathology developed in the first year of life are discussed. © 2017 Voprosy Sovremennoi Pediatrii - Current Pediatrics. All rights reserved.en
dc.format.mimetypeapplication/pdfen
dc.language.isoruen
dc.publisherPublishing House of the Union of Pediatriciansen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.sourceVoprosy Sovremennoi Pediatrii - Curr. Pediatr.2
dc.sourceVoprosy Sovremennoi Pediatrii - Current Pediatricsen
dc.subjectKRECen
dc.subjectNEONATAL SCREENINGen
dc.subjectPRIMARY IMMUNODEFICIENCYen
dc.subjectSEVERE COMBINED IMMUNE DEFICIENCYen
dc.subjectTRECen
dc.titleNeonatal screening for severe combined immune deficiency in Russia: Glorious future or tomorrow's reality?en
dc.titleНеонатальный скрининг на тяжелую комбинированную иммунную недостаточность в России: прекрасное дале ко или завтрашняя реальность?ru
dc.typeArticleen
dc.typeinfo:eu-repo/semantics/articleen
dc.typeinfo:eu-repo/semantics/publishedVersionen
dc.identifier.doi10.15690/vsp.v16i1.1696-
dc.identifier.scopus85102430102-
local.contributor.employeeDeryabina, S.S., Medical Center Health Care of Mother and Child, Ekaterinburg, Russian Federation, Institute of Immunology and Physiology, Ekaterinburg, Russian Federation, Ural Federal University N.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Russian Federation
local.contributor.employeeTuzankina, I.A., Institute of Immunology and Physiology, Ekaterinburg, Russian Federation, Ural Federal University N.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Russian Federation, Sverdlovsk Regional Children Clinical Hospital No. 1, Ekaterinburg, Russian Federation
local.contributor.employeeVlasova, E.V., Sverdlovsk Regional Children Clinical Hospital No. 1, Ekaterinburg, Russian Federation
local.contributor.employeeBolkov, M.A., Institute of Immunology and Physiology, Ekaterinburg, Russian Federation, Ural Federal University N.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Russian Federation
local.contributor.employeeShershnev, V.N., Ural Federal University N.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Russian Federation, Institute of Industrial Ecology, Ekaterinburg, Russian Federation
local.description.firstpage59-
local.description.lastpage66-
local.issue1-
local.volume16-
local.contributor.departmentMedical Center Health Care of Mother and Child, Ekaterinburg, Russian Federation
local.contributor.departmentInstitute of Immunology and Physiology, Ekaterinburg, Russian Federation
local.contributor.departmentUral Federal University N.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Russian Federation
local.contributor.departmentSverdlovsk Regional Children Clinical Hospital No. 1, Ekaterinburg, Russian Federation
local.contributor.departmentInstitute of Industrial Ecology, Ekaterinburg, Russian Federation
local.identifier.pure1987549-
local.identifier.pured036bc1e-b115-4cb3-862e-db5e62b0016euuid
local.identifier.eid2-s2.0-85102430102-
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