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.