Andersons pediatric cardiology 1582

64.Venkat-RamanN,SebireNJ,MurphyKW.
Recurrentfetalhydropsdueto
mucopolysaccharidosestypeVII.FetalDiagn
Ther.2006;21(3):250–254.
65.SleeperMM,FornasariB,EllinwoodNM,etal.
Genetherapyamelioratescardiovasculardisease
indogswithmucopolysaccharidosisVII.
Circulation.2004;110(7):815–820.
66.LeroyJG,DemarsRI.Mutantenzymaticand
cytologicalphenotypesinculturedhuman
fibroblasts.Science.1967;157:804–806.
67.KudoM,BremMS,CanfieldWM.
MucolipidosisII(I-celldisease)and
mucolipidosisIIIA(classicalPseudo-hurler
polydystrophy)arecausedbymutationsinthe
GlcNAc-phosphotransferaseα/β–subunits
precursorgene.AmJHumGenet.
2006;78(3):451–463.
68.LeroyJG,CatheyS,FriezMJ.MucolipidosisII.
PagonRA,AdamMP,ArdingerHH,etal.
GeneReviews.UniversityofWashington:Seattle
(WA);2008[Seattle;1993-2017;[updated2012
May10].
69.SakuraN,HayashidaM,WakiC,KobayashiM,
TanimotoT.Asymmetricventricularseptal
hypertrophyinI-celldisease.JInheritMetab
Dis.1986;9(4):401–402.


70.DaimonM,YamagishiM.Surgicaltreatmentof
markedmitralvalvardeformitycombninedwith

I-celldisease‘mucolipidosisII’.CardiolYoung.
2005;15(5):517–519.
71.KrivitW.Allogeneicstemcelltransplantationfor
thetreatmentoflysosomalandperoxisomal
metabolicdiseases.SpringerSemin
Immunopathol.2004;26(1–2):119–132.
72.Tylki-SzymanskaA,CzartoryskaB,GroenerJ,
LugowskaA.2002clinicalvariabilityin
mucolipidosisIII(pseudo-hurlerpolydystrophy).
AmJMedGenet.2002;108(3):214–218.
73.LeroyJG,CatheySS,FriezMJ.MucolipidosisIII
Alpha/Beta.PagonRA,AdamMP,Ardinger
HH,etal.GeneReviews®[Internet].University
ofWashington,:Seattle(WA);2008[Seattle;
1993-2017;[updated2012May10].
74.Raas-RothschildA,SpiegelR.MucolipidosisIII
gamma.PagonRA,AdamMP,ArdingerHH,et
al.GeneReviews.UniversityofWashington:
Seattle(WA);2010[Seattle;1993-2017;
[updated2012Jul5].
75.MehtaJ,DesnickRJ.AbbreviatedPRintervalin
mannosidosis.JPediatr.1978;92:599–601.
76.SunH,WolfeJH.Recentprogressinlysosomal
alpha-mannosidaseanditsdeficiency.ExpMol
Med.2001;33(1):1–7.


77.MichalskiJC,KleinA.Glycoproteinlysosomal
storagedisorders:alphaandbetamannosidosis,
fucosidosis,andalpha-nacetylgalactosaminidasedeficiency.Biochim

BiophysActa.1999;1455(2–3):69–84.
78.FletcherJL,TaylorRM.Therapydevelopment
forthelysosomalstoragediseasefucosidosis
usingthecanineanimalmodel.Pediatr
EndocrinolRev.2016;13(suppl1):697–706.
79.KellyTE,BartosheskyL,HarrisDJ,etal.
MucolipidosisI(acidneuraminidasedeficiency).
Threecasesanddelineationofthevariabilityof
phenotype.AmJDisChild.1981;135:703–708.
80.GillanJE,LowdenJA,GaskinK,CutzE.
Congenitalascitesasapresentingsignof
lysosomalstoragedisease.JPediatr.
1984;104(2):225–231.
81.OhedaY,KotaniM,MurataM,etal.Elimination
ofabnormalsialoglycoproteinsinfibroblasts
withsialidosisandgalactosialidosisbynormal
genetransferandenzymereplacement.
Glycobiology.2006;16(4):271–280.
82.TatanoY,TakeuchiN,KuwaharaJ,etal.
Elastogenesisincultureddermalfibroblasts
frompatientswithlysosomalβ-galactosidase,
protectiveprtoein/cathepsinAand
neuraminidase-1deficiencies.JMedInvest.