Wilson病的诊断和治疗

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P.O.Box2345Beijing100023,ChinaFax:+86-10-85381893Email:wcjd@wjgnet.com•REVIEW•αWorldChinJDigestol2003October;11(10):1614-1617ISSN1009-3079CN14-1260/Rμμμμμμμ1615·1GowPJ,SmallwoodRA,AngusPW,SmithAL,WallAJ,SewellRB.DiagnosisofWilson’sdisease:anexperienceoverthreedecades.Gut2000;46:415-41922000;8:17032001;9:44642002;10:1096-10975ChroniE,LekkaNP,TsibriE,EconomouA,PaschalisC.Acute,progressiveakinetic-rigidsyndromeinducedbyneurolepticsinacaseofWilson'sdisease.JNeuropsychiatryClinNeurosci2001;13:531-5326BarthelH,SorgerD,KuhnHJ,WagnerA,KlugeR,HermannW.DifferentialalterationofthenigrostriataldopaminergicsysteminWilson’sdiseaseinvestigatedwith[123I]ss-CITandhigh-resolutionSPET.EurJNuclMed2001;28:1656-16637KellerR,TortaR,LaggetM,CrastoS,BergamascoB.PsychiatricsymptomsaslateonsetofWilson’sdisease:neuroradiologicalfindings,clinicalfeaturesandtreatment.ItalJNeurolSci1999;20:49-548PatelAD,BozdechM.Wilsondisease.ArchOphthalmol2001;119:1556-15579Grudeva-PopovaJG,SpasovaMI,ChepilevaKG,ZaprianovZH.Acutehemolyticanemiaasaninitialclinicalmanifesta-tionofWilson’sdisease.FoliaMed(Plovdiv)2000;42:42-4610KuruvillaA,JosephS.'Faceofthegiantpanda’signinWilson’sdisease:revisited.NeurolIndia2000;48:395-39611HermannW,TietzeF,VillmannT,GrahmannF,WagnerA.ClinicalandfinemotortherapyassessmentinWilsondisease.Nervenarzt2000;71:970-97412MacedoG,MaiaJC,GomesA,AmilJ,FernandesN,CarneiroF,TeixeiraA,RibeiroT.Wilson’sdisease:challengingdiagnosis,management,andlivertransplantationtiming.TransplantProc2000;32:266813GaffneyD,FellGS,O'ReillyDS.ACPBestPracticeNo163.Wilson’sdisease:acuteandpresymptomaticlaboratorydi-agnosisandmonitoring.JClinPathol2000;53:807-81214YuceA,KocakN,YetginS,OzenH,GurakanF,YenicesuI.AcutelymphoblasticleukemiainachildwithWilsondisease.TurkJPediatr2000;42:256-25715GowPJ,PeacockSE,ChapmanRW.Wilson'sdiseasepresent-ingwithrapidlyprogressivevisualloss:anotherneurologicmanifestationofWilson'sdisease?JGastroenterolHepatol2001;16:699-70116YonetaniL,WalsheJM.SurvivingWilson’sdisease.ClinMed2001;1:72-7417SakaiT,ShirakiK,TadaT,FukeH,TanabeM,InoueH,SugimotoK,OhmoriS,TakaseK,NakanoT.ImagesinfocuslaparoscopicfindingsinWilson'sdiseasewithoutcirrhosis.Endoscopy2001;33:38918NichollDJ,FerenciP,PolliC,BurdonMB,PallHS.Wilson’sdiseasepresentinginafamilywithanapparentdominanthistoryoftremor.JNeurolNeurosurgPsychiatry2001;70:514-51619SternliebI.Wilson'sdisease.ClinLiverDis2000;4:229-3920GiaghedduM,TamburiniG,PigaM,TacconiP,GiaghedduA,SerraA,SiottoP,SattaL,DemeliaL,MarrosuF.Compari-sonofMRI,EEG,EPsandECD-SPECTinWilson’sdisease.ActaNeurolScand2001;103:71-8121LoudianosG,GitlinJD.Wilson’sdisease.SeminLiverDis2000;20:353-36422WilsonDC,PhillipsMJ,CoxDW,RobertsEA.SeverehepaticWilson’sdiseaseinpreschool-agedchildren.JPediatr2000;137:719-72223StuerenburgHJ,EggersC.Earlydetectionofnon-complianceinWilson’sdiseasebyconsecutivecopperdeterminationincere-brospinalfluid.JNeurolNeurosurgPsychiatry2000;69:701-70224PilloniL,LeccaS,ConiP,DemeliaL,PilleriG,SpigaE,FaaG,AmbuR.Wilson’sdiseasewithlateonset.DigLiverDis2000;32:18025ShionoY,WakusawaS,HayashiH,TakikawaT,YanoM,OkadaT,MabuchiH,KonoS,MiyajimaH.Ironaccumula-tionintheliverofmalepatientswithWilson'sdisease.AmJGastroenterol2001;96:3147-315126BarthelH,SorgerD,KuhnHJ,WagnerA,KlugeR,HermannW.DifferentialalterationofthenigrostriataldopaminergicsysteminWilson’sdiseaseinvestigatedwith[123I]ss-CITandhigh-resolutionSPET.EurJNuclMed2001;28:1656-166327PerrettiA,PellecchiaMT,LanzilloB,CampanellaG,SantoroL.ExcitatoryandinhibitorymechanismsinWilson’sdisease:investigationwithmagneticmotorcortexstimulation.JNeurolSci2001;192:35-4028SvetelM,KozicD,StefanovaE,SemnicR,DragasevicN,KosticVS.DystoniainWilson'sdisease.MovDisord2001;16:719-72329ShionoY,HayashiH,WakusawaS,YanoM.UltrastructuralidentificationofironandcopperaccumulationintheliverofamalepatientwithWilsondisease.MedElectronMicrosc2001;34:54-601616ISSN1009-3079CN14-1260/R30TavillAS,SchilskyML.Wilson’sDisease.CurrTreatOptionsGastroenterol1999;2:68-7131RodoM,CzonkowskaA,PulawskaM,SwiderskaM,TarnackaB,WehrH.Thelevelofserumlipids,vitaminEandlowdensitylipoproteinoxidationinWilson'sdiseasepatients.EurJNeurol2000;7:491-49432BullPC,ThomasGR,RommensJM,ForbeJR,CoxDW.TheWilsondiseasegeneisaputativecoppertransportingP–typeATPasesimilartotheMenkesgene.NatGenet1993;5:327-33733PetrukhinK,FischerSG,PirastuM,TanziRE,ChernovI,DevotoM,BrzustowiczLM,CayanisE,VitaleE,RussoJJ.Mapping,cloningandgeneticcharacterizationoftheregioncontainingtheWilsondiseasegene.NatGenet1993;5:338-34334TanziRE,PetrukhinK,ChernovI,PellequerJL,WascoW,RossDM,ParanoE,PavoneL,BrzustowiczLM.TheWilsondiseasegeneisacoppertransportingATPasewithhomol-ogytotheMenkesgene.NatGenet1993;5:344-35035RiordanSM,WilliamsR.TheWilson’sdiseasegeneandphe-notypicdiversity.JHepatol2001;34:165-17136LoudianosG,LovicuM,SolinasP,KanavakisE,TzetisM,ManolakiN,PanagiotakakiE,KarpathiosT,CaoA.Delinea-tionofthespectrumofWilsondiseasemutationsintheGreekpopulationandtheidentificationofsixnovelmutations.Genet

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