Tải bản đầy đủ (.pdf) (3 trang)

Andersons pediatric cardiology 1673

Bạn đang xem bản rút gọn của tài liệu. Xem và tải ngay bản đầy đủ của tài liệu tại đây (60.79 KB, 3 trang )

1996;335(16):1169–1175.
156.BabcockM,deSilvaD,OaksR,etal.
Regulationofmitochondrialironaccumulation
byyfh1p,aputativehomologoffrataxin.
Science.1997;276(5319):1709–1712.
157.PuccioH,SimonD,CosseeM,etal.Mouse
modelsforfriedreichataxiaexhibit
cardiomyopathy,sensorynervedefectandFe-S
enzymedeficiencyfollowedby
intramitochondrialirondeposits.NatGenet.
2001;27(2):181–186.
158.PerdominiM,BelbellaaB,MonassierL,etal.
Preventionandreversalofseveremitochondrial
cardiomyopathybygenetherapyinamouse
modelofFriedreich'sataxia.NatMed.
2014;20(5):542–547.
159.RotigA,deLonlayP,ChretienD,etal.
Aconitaseandmitochondrialiron-sulphur
proteindeficiencyinfriedreichataxia.Nat
Genet.1997;17(2):215–217.
160.RegnerSR,LagedrostSJ,PlappertT,etal.
Analysisofechocardiogramsinalarge
heterogeneouscohortofpatientswithfriedreich
ataxia.AmJCardiol.2012;109(3):401–405.
161.KippsA,AlexanderM,ColanSD,etal.The
longitudinalcourseofcardiomyopathyin
Friedreich'sataxiaduringchildhood.Pediatr


Cardiol.2009;30(3):306–310.
162.RamanSV,PhatakK,HoyleJC,etal.Impaired


myocardialperfusionreserveandfibrosisin
friedreichataxia:amitochondrial
cardiomyopathywithmetabolicsyndrome.Eur
HeartJ.2011;32(5):561–567.
163.WeidemannF,RummeyC,BijnensB,etal.The
heartinfriedreichataxia:definitionof
cardiomyopathy,diseaseseverity,and
correlationwithneurologicalsymptoms.
Circulation.2012;125(13):1626–1634.
164.PoussetF,LegrandL,MoninML,etal.A22yearFollow-upstudyofLong-termcardiac
outcomeandpredictorsofsurvivalinfriedreich
ataxia.JAMANeurol.2015;72(11):1334–1341.
165.MottramPM,DelatyckiMB,DonelanL,etal.
Earlychangesinleftventricularlong-axis
functioninfriedreichataxia:relationwiththe
FXNgenemutationandcardiacstructural
change.JAmSocEchocardiogr.
2011;24(7):782–789.
166.ReetzK,DoganI,CostaAS,etal.Biological
andclinicalcharacteristicsoftheEuropean
Friedreich'sataxiaconsortiumfortranslational
studies(EFACTS)cohort:across-sectional
analysisofbaselinedata.LancetNeurol.
2015;14(2):174–182.


167.CorbenLA,LynchD,PandolfoM,etal.
Consensusclinicalmanagementguidelinesfor
friedreichataxia.OrphanetJRareDis.
2014;9:184.

168.KearneyM,OrrellRW,FaheyM,BrassingtonR,
PandolfoM.Pharmacologicaltreatmentsfor
friedreichataxia.CochraneDatabaseSystRev.
2016;(8)[CD007791].
169.MariottiC,SolariA,TortaD,etal.Idebenone
treatmentinfriedreichpatients:one-year-long
randomizedplacebo-controlledtrial.Neurology.
2003;60(10):1676–1679.
170.LagedrostSJ,SuttonMS,CohenMS,etal.
Idebenoneinfriedreichataxiacardiomyopathyresultsfroma6-monthphaseIIIstudy(IONIA).
AmHeartJ.2011;161(3):639–645.e1.
171.CooperJM,KorliparaLV,HartPE,BradleyJL,
SchapiraAH.Coenzymeq10andvitaminE
deficiencyinFriedreich'sataxia:predictorof
efficacyofvitaminEandcoenzymeq10therapy.
EurJNeurol.2008;15(12):1371–1379.
172.Elincx-BenizriS,GlikA,MerkelD,etal.
Clinicalexperiencewithdeferipronetreatment
forfriedreichataxia.JChildNeurol.
2016;31(8):1036–1040.
173.ColucciWS,LorellBH,SchoenFJ,WarholMJ,
GrossmanW.Hypertrophicobstructive



×