Tải bản đầy đủ (.pdf) (3 trang)

Andersons pediatric cardiology 1584

Bạn đang xem bản rút gọn của tài liệu. Xem và tải ngay bản đầy đủ của tài liệu tại đây (60.89 KB, 3 trang )

typesAandBNiemannPickdisease.JPediatr.
2004;145(1):7781.
103.GaucherPCE.DeL'epitheliomePrimitifDeLa
Rate.[ThesedeParis]1882.
104.AbrahamovA,ElsteinD,Gross-TsurV,etal.
Gaucher'sdiseasevariantcharacterisedby
progressivecalcificationofheartvalvesand
uniquegenotype.Lancet.1995;346:10001003.
105.SaradarM,AtalayS,KoỗakN,ệzkutluS.
Gaucher'sdiseasewithmitralandaortic
involvement:echocardiographicfindings.
PediatrCardiol.1991;13:5658.
106.GeorgeR,McMahonJ,LytleB,ClarkB,Lichtin
A.Severevalvularandaorticarchcalcification
inapatientwithGaucher'sdiseasehomozygous
forthed409hmutation.ClinGenet.
2001;59(5):360363.
107.LinariS,CastamanG.Clinicalmanifestations
andmanagementofgaucherdisease.ClinCases
MinerBoneMetab.2015;12(2):157164.
108.EngCM,GermainDP,BanikazemiM,etal.
Fabrydisease:guidelinesfortheevaluationand
managementofmulti-organsysteminvolvement.
GenetMed.2006;8(9):539548.
109.DesnickRJ,BliedenLD,SharpHL,MollerJH.
CardiacvalvularanomaliesinFabry'sdisease:
clinical,morphologicandbiochemicalstudies.


Circulation.1976;54:818–825.
110.MehtaJ,TunaN,MollerJH,DesnickRJ.


Electrocardiographicandvectorcardiographic
abnormalitiesinFabry'sdisease.AmHeartJ.
1977;93:699–705.
111.BassJL,ShrivastavaS,GrabowskiGA,Desnick
RJ,MollerJH.TheM-modeechocardiogramin
Fabry'sdisease.AmHeartJ.1980;100:807–812.
112.BeckM.Agalsidasealfa—apreparationfor
enzymereplacementtherapyinAnderson-fabry
disease.ExpertOpinInvestigDrugs.
2002;11(6):851–858.
113.LidoveO,JolyD,BarbeyF,etal.Clinicalresults
ofenzymereplacementtherapyinfabrydisease:
acomprehensivereviewoftheliterature.IntJ
CliniPract.2007;61(2):293–302.
114.YuasaT,TakenakaT,HiguchiK,etal.Fabry
disease.JEchocardiogr.2017.
115.GuertlB,NoehammerC,HoeflerG.Metabolic
cardiomyopathies.IntJExpPathol.
2000;81(6):349–372.
116.GilbertEF,VarakisJ,OpitzJM,etal.
GeneralizedgangliosidosistypeII(juvenile
GM1gangliosidosis).Apathological,
histochemicalandultrastructuralstudy.Z
Kinderheilkd.1975;120(3):151–180.
117.GillanJE,LowdenJA,GaskinK,CutzE.


Congenitalscitesasapresentingsignof
lysosomalstoragedisease.JPediatr.
1984;104(2):225–231.

118.RosenburgH,FrewenTC,LiMD,etal.Cardiac
involvementindiseasescharacterizedbyβgalactosidasedeficiency.JPediatr.
1985;106:78–80.
119.CallahanJW.MolecularbasisofGM1
gangliosidosisandmorquiodisease,typeB.
Structure-functionstudiesoflysosomalbetagalactosidaseandthenon-lysosomalbetagalactosidase-likeprotein.BiochimBiophys
Acta.1999;1455(2–3):85–103.
120.BradyRO.Emergingstrategiesforthetreatment
ofhereditarymetabolicstoragedisorders.
RejuvenationRes.2006;9(2):237–244.
121.SuzukiY.Beta-galactosidasedeficiency:an
approachtochaperonetherapy.JInheritMetab
Dis.2006;29(2–3):471–476.
122.MatsudaJ,SuzukiO,OshimaA,etal.Chemical
chaperonetherapyforbrainpathologyin
G(M1)-gangliosidosis.ProcNatlAcadSciUSA.
2003;100(26):15912–15917.
123.SandhoffK,HarzerK.Gangliosidesand
gangliosidoses:principlesofmolecularand
metabolicpathogenesis.JNeurosci.
2013;33(25):10195–10208.



×