Andersons pediatric cardiology 1671
Bạn đang xem bản rút gọn của tài liệu. Xem và tải ngay bản đầy đủ của tài liệu tại đây (60.49 KB, 3 trang )
andclinicalfeaturesofcostellosyndromeand
cardio-facio-cutaneoussyndromeinJapan:
findingsfromanationwideepidemiological
survey.AmJMedGenetA.2012;158A(5):1083–
1094.
120.AllansonJE,AnnerenG,AokiY,etal.Cardiofacio-cutaneoussyndrome:doesgenotype
predictphenotype?AmJMedGenetCSemin
MedGenet.2011;157C(2):129–135.
121.NishinoI,FuJ,TanjiK,etal.PrimaryLAMP-2
deficiencycausesX-linkedvacuolar
cardiomyopathyandmyopathy(danondisease).
Nature.2000;406(6798):906–910.
122.NgKM,MokPY,ButlerAW,etal.Amelioration
ofX-linkedrelatedautophagyfailureindanon
diseasewithDNAmethylationinhibitor.
Circulation.2016;134(18):1373–1389.
123.YangZ,McMahonCJ,SmithLR,etal.Danon
diseaseasanunderrecognizedcauseof
hypertrophiccardiomyopathyinchildren.
Circulation.2005;112(11):1612–1617.
124.AradM,MaronBJ,GorhamJM,etal.Glycogen
storagediseasespresentingashypertrophic
cardiomyopathy.NEnglJMed.
2005;352(4):362–372.
125.MaronBJ,RobertsWC,AradM,etal.Clinical
outcomeandphenotypicexpressioninLAMP2
cardiomyopathy.JAMA.2009;301(12):1253–
1259.
126.CharronP,VillardE,SebillonP,etal.Danon's
diseaseasacauseofhypertrophic
cardiomyopathy:asystematicsurvey.Heart.
2004;90(8):842–846.
127.BoucekD,JirikowicJ,TaylorM.Naturalhistory
ofdanondisease.GenetMed.2011;13(6):563–
568.
128.ChengZ,CuiQ,TianZ,etal.Danondiseaseas
acauseofconcentricleftventricular
hypertrophyinpatientswhounderwent
endomyocardialbiopsy.EurHeartJ.
2012;33(5):649–656.
129.SugieK,YamamotoA,MurayamaK,etal.
Clinicopathologicalfeaturesofgenetically
confirmeddanondisease.Neurology.
2002;58(12):1773–1778.
130.StokesMB,TaylorAJ,McLeanCA,D'ArcyCE,
MarianiJA.Severeleftventricularhypertrophy
andmarkedcardiacfibrosisindanondisease.Int
JCardiol.2016;221:14–16.
131.MianiD,TaylorM,MestroniL,etal.Sudden
deathassociatedwithdanondiseaseinwomen.
AmJCardiol.2012;109(3):406–411.
132.FinstererJ,StollbergerC,MaeztuC.Sudden
cardiacdeathinneuromusculardisorders.IntJ
Cardiol.2016;203:508–515.
133.ThevenonJ,LaurentG,AderF,etal.High
prevalenceofarrhythmicandmyocardial
complicationsinpatientswithcardiac
glycogenosisduetoPRKAG2mutations.
Europace.2016.
134.GollobMH,SegerJJ,GollobTN,etal.Novel
PRKAG2mutationresponsibleforthegenetic
syndromeofventricularpreexcitationand
conductionsystemdiseasewithchildhoodonset
andabsenceofcardiachypertrophy.Circulation.
2001;104(25):3030–3033.
135.MurphyRT,MogensenJ,McGarryK,etal.
Adenosinemonophosphate-activatedprotein
kinasediseasemimickshypertrophic
cardiomyopathyandWolff-parkinson-white
syndrome:naturalhistory.JAmCollCardiol.
2005;45(6):922–930.
136.LuptakI,ShenM,HeH,etal.Aberrant
activationofAMP-activatedproteinkinase
remodelsmetabolicnetworkinfavorofcardiac
glycogenstorage.JClinInvest.
2007;117(5):1432–1439.
137.AradM,MoskowitzIP,PatelVV,etal.
Transgenicmiceoverexpressingmutant
PRKAG2definethecauseofWolff-parkinsonwhitesyndromeinglycogenstorage
