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  3. Научные публикации ученых УрФУ, проиндексированные в SCOPUS и WoS CC
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dc.contributor.authorBelykh, N. A.en
dc.contributor.authorAkhkyamova, M. A.en
dc.contributor.authorGusev, V. V.en
dc.contributor.authorLvova, O. A.en
dc.date.accessioned2020-09-29T09:46:32Z-
dc.date.available2020-09-29T09:46:32Z-
dc.date.issued2020-
dc.identifier.citationA case report of dopa-responsive dystonia in a young woman / N. A. Belykh, M. A. Akhkyamova, V. V. Gusev, O. A. Lvova. — DOI 10.24075/brsmu.2020.031 // Bulletin of Russian State Medical University. — 2020. — Vol. 3. — P. 45-48.en
dc.identifier.issn2500-1094-
dc.identifier.otherhttps://vestnikrgmu.ru/files/issues/vestnik.rsmu.press/2020/3/2020-3-8_en.pdf?lang=enpdf
dc.identifier.other1good_DOI
dc.identifier.othere2b2197f-0d1b-491f-aa5f-e779fffdacd5pure_uuid
dc.identifier.otherhttp://www.scopus.com/inward/record.url?partnerID=8YFLogxK&scp=85089958258m
dc.identifier.urihttp://elar.urfu.ru/handle/10995/90227-
dc.description.abstractDopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy. © 2020 Pirogov Russian National Research Medical University. All rights reserved.en
dc.format.mimetypeapplication/pdfen
dc.language.isoenen
dc.publisherPirogov Russian National Research Medical Universityen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.rightscc-byother
dc.sourceBulletin of Russian State Medical Universityen
dc.subjectDOPA-RESPONSIVE DYSTONIAen
dc.subjectHEREDITARY DYSTONIAen
dc.subjectSEGAWA SYNDROMEen
dc.subjectBACLOFENen
dc.subjectCARBIDOPAen
dc.subjectCHOLINESTERASE INHIBITORen
dc.subjectDOPAMINEen
dc.subjectLEVODOPAen
dc.subjectLIVER PROTECTIVE AGENTen
dc.subjectMULTIVITAMINen
dc.subjectPARAFFINen
dc.subjectTIZANIDINEen
dc.subjectVASODILATOR AGENTen
dc.subjectADULTen
dc.subjectARM WEAKNESSen
dc.subjectARTICLEen
dc.subjectBRAIN ATROPHYen
dc.subjectCASE REPORTen
dc.subjectCLINICAL ARTICLEen
dc.subjectCLINICAL FEATUREen
dc.subjectCUBITAL TUNNEL SYNDROMEen
dc.subjectDISABILITYen
dc.subjectDOPA RESPONSIVE DYSTONIAen
dc.subjectDRUG WITHDRAWALen
dc.subjectELECTRONEUROGRAPHYen
dc.subjectENCEPHALOPOLYRADICULONEUROPATHYen
dc.subjectEXERCISEen
dc.subjectFEMALEen
dc.subjectFOOTen
dc.subjectGAIT DISORDERen
dc.subjectGCHI GENEen
dc.subjectGENE MUTATIONen
dc.subjectGENETIC SCREENINGen
dc.subjectHETEROZYGOTEen
dc.subjectHUMANen
dc.subjectINTERVERTEBRAL DISK DEGENERATIONen
dc.subjectLEG MUSCLEen
dc.subjectLIMB WEAKNESSen
dc.subjectMASSAGEen
dc.subjectMUSCLE FATIGUEen
dc.subjectMUSCLE SPASMen
dc.subjectNEUROIMAGINGen
dc.subjectNUCLEAR MAGNETIC RESONANCE IMAGINGen
dc.subjectOSTEOPHYTEen
dc.subjectPARAPLEGIAen
dc.subjectPATHOGENESISen
dc.subjectPOLYMERASE CHAIN REACTIONen
dc.subjectPOLYRADICULONEUROPATHYen
dc.subjectRADICULOPATHYen
dc.subjectSINGLE NUCLEOTIDE POLYMORPHISMen
dc.subjectTORSION DYSTONIAen
dc.subjectWALKING DIFFICULTYen
dc.titleA case report of dopa-responsive dystonia in a young womanen
dc.typeArticleen
dc.typeinfo:eu-repo/semantics/articleen
dc.typeinfo:eu-repo/semantics/publishedVersionen
dc.identifier.rsi45334025-
dc.identifier.doi10.24075/brsmu.2020.031-
dc.identifier.scopus85089958258-
local.affiliationCentral Clinical Hospital № 23, Yekaterinburg, Russian Federationen
local.affiliationUral State Medical University, Yekaterinburg, Russian Federationen
local.affiliationYeltsin Ural Federal University, Yekaterinburg, Russian Federationen
local.contributor.employeeBelykh, N.A., Ural State Medical University, Yekaterinburg, Russian Federationru
local.contributor.employeeAkhkyamova, M.A., Ural State Medical University, Yekaterinburg, Russian Federationru
local.contributor.employeeGusev, V.V., Central Clinical Hospital № 23, Yekaterinburg, Russian Federation, Ural State Medical University, Yekaterinburg, Russian Federation, Yeltsin Ural Federal University, Yekaterinburg, Russian Federationru
local.contributor.employeeLvova, O.A., Ural State Medical University, Yekaterinburg, Russian Federation, Yeltsin Ural Federal University, Yekaterinburg, Russian Federationru
local.description.firstpage45-
local.description.lastpage48-
local.volume3-
dc.identifier.wos000549104300008-
local.identifier.pure13403041-
local.identifier.eid2-s2.0-85089958258-
local.identifier.wosWOS:000549104300008-
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