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pi smiennictwo/references

[1] MachaczkaM.Cohematologpowinienwiedziećochorobie Gauchera.ActaHaematolPol2013;44:301–306.

[2] RosenbloomBE,WeinrebNJ.Gaucherdisease:a comprehensivereview.CritRevOncog2013;18(3):163–

175.

[3] GrabowskiGA.Phenotype,diagnosis,andtreatmentof Gaucher’sdisease.Lancet2008;372:1263–1271.

[4] HruskaKS,LaMarcaME,ScottCR,SidranskyE.Gaucher disease:mutationandpolymorphismspectruminthe glucocerebrosidasegene(GBA).HumMutat2008;29:567–

583.

[5] MistryP,GermainDP.PhenotypevariationsinGaucher disease.RevMedInterne2006Mar;27Suppl1:S3–S10.

[6] KleinotieneG.Ocenawynikówenzymatycznegoleczenia substytucyjnegopolskichilitewskichpacjentówzchorobą Gaucherawzależnościodfenotypuigenotypu

(niepublikowanarozprawadoktorska).Warszawa:Instytut

„Pomnik-CentrumZdrowiaDziecka”;2007.

[7] BiegstraatenM,vanSchaikIN,AertsJM,HollakCE. ’Non-neuronopathic’Gaucherdiseasereconsidered.

PrevalenceofneurologicalmanifestationsinaDutch cohortoftypeIGaucherdiseasepatientsanda systematicreviewoftheliterature.JInheritMetabDis 2008;31:337–349.

[8] ScottSA,EdelmannL,LiuL,LuoM,DesnickRJ,Kornreich R.Experiencewithcarrierscreeningandprenatal diagnosisforsixteenAshkenazijewishgeneticdiseases.

HumMutat2010;31:1240–1250.

[9] FairleyC,ZimranA,PhillipsM,CizmarikM,YeeJ,Weinreb N,etal.PhenotypicheterogeneityofN370Shomozygotes withtypeIGaucherdisease:ananalysisof798patients fromtheICGGGaucherRegistry.JInheritMetabDis 2008;31(6):738–744.

[10] GrabowskiGA,ZimranA,IdaH.Gaucherdiseasetypes1 and3:Phenotypiccharacterizationoflargepopulations fromtheICGGGaucherRegistry.AmJHematol2015;90 Suppl1:S12–S18.

[11] ParkJK,OrviskyE,TayebiN,KaneskiC,LamarcaME, StubblefieldBK,etal.MyoclonicepilepsyinGaucher disease:genotype-phenotypeinsightsfromararepatient subgroup.PediatrRes2003;53(3):387–395.

[12] UyamaE,TakahashiK,OwadaM,OkamuraR,NaitoM, TsujiS,etal.Hydrocephalus,cornealopacities,deafness, valvularheartdisease,deformedtoesandleptomeningeal fibrousthickeninginadultsiblings:anewsyndrome associatedwithbeta-glucocerebrosidasedeficiencyanda mosaicpopulationofstoragecells.ActaNeurolScand 1992;86(4):407–420.

[13] IdaH,IwasawaK,KawameH,RennertOM,MaekawaK,Eto Y.Characteristicsofgenemutationsamong32unrelated JapaneseGaucherdiseasepatients:absenceofthe commonJewish84GGand1226Gmutations.HumGenet 1995;95(6):717–720.

[14] DiazGA,GelbBD,RischN,NygaardTG,FrischA,CohenIJ, etal.Gaucherdisease:theoriginsoftheAshkenaziJewish N370Sand84GGacidbeta-glucosidasemutations.AmJ HumGenet2000;66(6):1821–1832.

[15] ParkJK,KoprivicaV,AndrewsDQ,MadikeV,TayebiN, StoneDL,etal.Glucocerebrosidasemutationsamong African-Americanpatientswithtype1Gaucherdisease.

AmJMedGenet2001;99(2):147–151.

[16] ConcolinoD,MussariA,FilocamoM,StrisciuglioP.Rare compoundheterozygosityforIVS2+1G>AandR170Pinan ItalianpatientwithGaucherdiseasetype1.ClinGenet 2003;64(3):261–262.

[17] KaplanP,AnderssonHC,KacenaKA,YeeJD.Theclinical anddemographiccharacteristicsofnonneuronopathic Gaucherdiseasein887childrenatdiagnosis.ArchPediatr AdolescMed2006;160(6):603–608.

[18] Tylki-SzymańskaA,MillatG,MaireI,CzartoryskaB.Types IandIIIGaucherdiseaseinPoland:incidenceofthemost commonmutationsandphenotypicmanifestations.EurJ HumGenet1996;4(6):334–337.

[19] Tylki-SzymańskaA,VellodiA,El-BeshlawyA,ColeJA, KolodnyE.NeuronopathicGaucherdisease:demographic andclinicalfeaturesof131patientsenrolledinthe InternationalCollaborativeGaucherGroupNeurological OutcomesSubregistry.JInheritMetabDis2010;33 (4):339–346.

[20] DeeganPB,CoxTM.Imigluceraseinthetreatmentof Gaucherdisease:ahistoryandperspective.DrugDes DevelTher2012;6:81–106.

[21] GrabowskiGA.Deliveryoflysosomalenzymesfor therapeuticuse:glucocerebrosidaseasanexample.Expert OpinDrugDeliv2006;3(6):771–782.

[22] Markuszewska-KuczyńskaA,KlimkowskaM,RegenthalS, BulandaA,KämpeBjörkvallC,MachaczkaM.Atypical cytomorphologyofGauchercellsisfrequentlyseenin bonemarrowsmearsfromuntreatedpatientswith Gaucherdiseasetype1.FoliaHistochemCytobiol2015;53 (1):62–69.

[23] BeckerJG,PastoresGM,DiRoccoA,FerrarisM,GraberJJ, SatheS.Parkinson’sdiseaseinpatientsandobligate carriersofGaucherdisease.ParkinsonismRelatDisord 2013;19(1):129–131.

[24] BurrowTA,BarnesS,GrabowskiGA.Prevalenceand managementofGaucherdisease.PediatricHealthMed Ther2011;2:59–67.

[25] BennettLL,MohanD.Gaucherdiseaseanditstreatment options.AnnPharmacother2013;47(9):1182–1193.

[26] StirnemannJ,ViganM,HamrounD,HeraouiD, Rossi-SemeranoL,BergerMG,etal.TheFrenchGaucher’s diseaseregistry:clinicalcharacteristics,complications andtreatmentof562patients.OrphanetJRareDis 2012;7:77.

[27] KaplanP,BarisH,DeMeirleirL,DiRoccoM,El-BeshlawyA, HuemerM,etal.Revisedrecommendationsforthe managementofGaucherdiseaseinchildren.EurJPediatr 2013;172(4):447–458.

[28] MistryPK,CappelliniMD,LukinaE,OzsanH,MachPascual S,RosenbaumH,etal.AreappraisalofGaucher disease-diagnosisanddiseasemanagementalgorithms.AmJ Hematol2011;86(1):110–115.

[29] DahlN,LagerströmM,EriksonA,PetterssonU.Gaucher diseasetypeIII(Norrbottniantype)iscausedbyasingle mutationinexon10oftheglucocerebrosidasegene.AmJ HumGenet1990;47(2):275–278.

[30] MachaczkaM,KämpeBjörkvallC,WieremiejczykJ, PaucarArceM,Myhr-ErikssonK,KlimkowskaM,etal.

Impactofimiglucerasesupplyshortageonclinicaland laboratoryparametersinNorrbottnianpatientswith Gaucherdiseasetype3.ArchImmunolTherExp(Warsz) 2015;63(1):65–71.

[31] DziełakD,WłodarczykJ,IłowieckaK.Finansowanie szczególniewysokichkosztówleczeniapacjentóww2011 r.http://www.nfz.gov.pl/download/gfx/nfz/pl/

defaultstronaopisowa/349/9/1/

koszty_leczenia_pacjentow_pow_100_tys.pdf.Data dostępu:18.02.2017.

[32] Markuszewska-KuczyńskaA,MachaczkaM.Zarys objawówklinicznych,leczeniaoraztrudnościw rozpoznawaniuchorobyGauchera.ActaHaematolPol 2015;46:149–157.

[33] CoxTM,SchofieldJP.Gaucher’sdisease:clinicalfeatures andnaturalhistory.BaillieresClinHaematol1997;10 (4):657–689.

[34] DeeganPB,PavlovaE,TindallJ,SteinPE,BearcroftP,Mehta A,etal.OsseousmanifestationsofadultGaucherdisease intheeraofenzymereplacementtherapy.Medicine (Baltimore)2011;90(1):52–60.

[35] SidranskyE,LopezG.ThelinkbetweentheGBAgeneand parkinsonism.LancetNeurol2012;11(11):986–998.

[36] PastoresGM,HughesDA.Non-neuronopathiclysosomal storagedisorders:Diseasespectrumandtreatments.Best PractResClinEndocrinolMetab2015;29(2):173–182.

[37] ThomasAS,MehtaAB,HughesDA.DiagnosingGaucher disease:anon-goingneedforincreasedawareness amongsthaematologists.BloodCellsMolDis2013;50 (3):212–217.

[38] StoneDL,GinnsEI,KrasnewichD,SidranskyE. Life-threateningsplenichemorrhageintwopatientswith Gaucherdisease.AmJHematol2000;64(2):140–142.

[39] MachaczkaM.Zarysproblemuchoróbrzadkichna podstawieomówieniaseriiprzypadkówpacjentówz

chorobąGauchera.PrzypadkiMedycznepl2016;81:

378–384.

[40] MaasM,PollLW,TerkMR.Imagingandquantifying skeletalinvolvementinGaucherdisease.BrJRadiol 2002;75Suppl1:A13–A24.

[41] SimsKB,PastoresGM,WeinrebNJ,BarrangerJ, RosenbloomBE,PackmanS,etal.Improvementofbone diseasebyimiglucerase(Cerezyme)therapyinpatients withskeletalmanifestationsoftype1Gaucherdisease:

resultsofa48-monthlongitudinalcohortstudy.Clin Genet2008;73(5):430–440.

[42] Goker-AlpanO.Therapeuticapproachestobonepathology inGaucherdisease:past,presentandfuture.MolGenet Metab2011;104(4):438–447.

[43] CharrowJ,DulisseB,GrabowskiGA,WeinrebNJ.Theeffect ofenzymereplacementtherapyonbonecrisisandbone paininpatientswithtype1Gaucherdisease.ClinGenet 2007;71(3):205–211.

[44] CoxTM,AertsJM,BelmatougN,CappelliniMD,vomDahl S,GoldblattJ,etal.Managementofnon-neuronopathic Gaucherdiseasewithspecialreferencetopregnancy, splenectomy,bisphosphonatetherapy,useofbiomarkers andbonediseasemonitoring.JInheritMetabDis2008;31 (3):319–336.

[45] Weinreb,BarrangerJ,PackmanS,Prakash-ChengA, RosenbloomB,SimsK,etal.Imiglucerase(Cerezyme) improvesqualityoflifeinpatientswithskeletal manifestationsofGaucherdisease.ClinGenet2007;71 (6):576–588.

[46] DamianoAM,PastoresGM,WareJrJE.Thehealth-related qualityoflifeofadultswithGaucher’sdiseasereceiving enzymereplacementtherapy:resultsfromaretrospective study.QualLifeRes1998;7(5):373–386.

[47] PackmanW,CrosbieTW,BehnkenM,EudyK,PackmanS.

LivingwithGaucherdisease:Emotionalhealth, psychosocialneedsandconcernsofindividualswith Gaucherdisease.AmJMedGenetA2010;152A(8):

2002–2010.

[48] WeissK,GonzalezAN,LopezG,PedoeimL,GrodenC, SidranskyE.TheclinicalmanagementofType2Gaucher disease.MolGenetMetab2015;114(2):110–122.

[49] DreborgS,EriksonA,HagbergB.Gaucherdisease -Norrbottniantype.I.Generalclinicaldescription.EurJ Pediatr1980;133(2):107–118.

[50] MachaczkaM,PaucarM,BjörkvallCK,SmithNJ,CoxTM, ForsgrenL,etal.Novelhyperkineticdystonia-like manifestationandneurologicaldiseasecourseofSwedish Gaucherpatients.BloodCellsMolDis2016Oct21[Epub aheadofprint].

[51] MachaczkaM,LernerR,KlimkowskaM,HägglundH.

TreatmentofmultiplemyelomainpatientswithGaucher disease.AmJHematol2009;84(10):694–696.

[52] ArendsM,vanDussenL,BiegstraatenM,HollakCE.

MalignanciesandmonoclonalgammopathyinGaucher disease;asystematicreviewoftheliterature.BrJ Haematol2013;161:832–842.

[53] MistryPK,TaddeiT,vomDahlS,RosenbloomBE.Gaucher diseaseandmalignancy:amodelforcancerpathogenesis inaninbornerrorofmetabolism.CritRevOncog2013;18 (3):235–246.

[54] Markuszewska-KuczyńskaA,KämpeBjörkvallC,LorenzF, KleinotieneG,KlimkowskaM,MachaczkaM.Długotrwała pancytopeniapochemioterapiijakoobjawdemaskujący chorobęGaucheraupacjentkizrakiempłuca.Acta HaematolPol2014;45(3):294–300.

[55] TaddeiTH,KacenaKA,YangM,YangR,MalhotraA,Boxer M,etal.Theunder-recognizedprogressivenatureof N370SGaucherdiseaseandhighriskofcancerin403 patients.AmJHematol2009;84:208–214.

[56] WeinrebNJ,LeeRE.Causesofdeathduetohematological andnon-hematologicalcancersin57USpatientswith type1GaucherDiseasewhowerenevertreatedwith enzymereplacementtherapy.CritRevOncog2013;18 (3):177–195.

[57] WeinrebNJ,DeeganP,KacenaKA,MistryP,PastoresGM, VelentgasP,etal.LifeexpectancyinGaucherdiseasetype 1.AmJHematol2008;83(12):896–900.

[58] BarrettMJ,GiraldoP,CapabloJL,AlfonsoP,IrunP, Garcia-RodriguezB,etal.Greaterriskofparkinsonismassociated withnon-N370SGBA1mutations.JInheritMetabDis 2013;36(3):575–580.

[59] MachaczkaM,RucinskaM,SkotnickiAB,JurczakW.

Parkinson’ssyndromeprecedingclinicalmanifestationof Gaucher’sdisease.AmJHematol1999;61(3):216–217.

[60] YangNY,LeeYN,LeeHJ,KimYS,LeeSJ.

Glucocerebrosidase,anewplayerchangingtheold rulesinLewybodydiseases.BiolChem2013;394(7):

807–818.

[61] MurphyKE,GysbersAM,AbbottSK,TayebiN,KimWS, SidranskyE,etal.Reducedglucocerebrosidaseis associatedwithincreaseda-synucleininsporadic Parkinson’sdisease.Brain2014;137:834–848.

[62] LangeveldM,deFostM,AertsJM,SauerweinHP,HollakCE.

Overweight,insulinresistanceandtypeIIdiabetesintype IGaucherdiseasepatientsinrelationtoenzyme replacementtherapy.BloodCellsMolDis2008;40(3):428–

432.

[63] ZimmermannA,Grigorescu-SidoP,RossmannH,Lackner KJ,DruganC,AlKhzouzC,etal.Dynamicchangesoflipid profileinRomanianpatientswithGaucherdiseasetype1 underenzymereplacementtherapy:aprospectivestudy.J InheritMetabDis2013;36(3):555–563.

[64] vomDahlS,MönnighoffI,HäussingerD.Decreaseof plasmataurineinGaucherdiseaseanditssustained correctionduringenzymereplacementtherapy.Amino Acids2000;19(3–4):585–592.

[65] RosenbaumH,SidranskyE.Cholelithiasisinpatientswith Gaucherdisease.BloodCellsMolDis2002;28(1):21–27.

[66] HughesD,CappelliniMD,BergerM,VanDroogenbroeckJ, deFostM,JanicD,etal.Recommendationsforthe managementofthehaematologicaland

onco-haematologicalaspectsofGaucherdisease.BrJHaematol 2007;138(6):676–686.

[67] DiRoccoM,AndriaG,DeodatoF,GionaF,MicalizziC, PessionA.EarlydiagnosisofGaucherdiseaseinpediatric patients:proposalforadiagnosticalgorithm.PediatrBlood Cancer2014;61(11):1905–1909.

[68] WeinrebNJ,AggioMC,AnderssonHC,AndriaG,CharrowJ, ClarkeJT,etal.,InternationalCollaborativeGaucherGroup (ICGG).GaucherDiseaseType1:Revised

Recommendationsonevaluationsandmonitoringfor adultpatients.SeminHematol2004;41(suppl5):15–22.

[69] AertsJM,KallemeijnWW,WegdamW,JoaoFerrazM, vanBreemenMJ,DekkerN,etal.Biomarkersinthe diagnosisoflysosomalstoragedisorders:proteins, lipids,andinhibodies.JInheritMetabDis2011;34(3):

605–619.

[70] RolfsA,GieseAK,GrittnerU,MascherD,ElsteinD,Zimran A,etal.Glucosylsphingosineisahighlysensitiveand specificbiomarkerforprimarydiagnosticandfollow-up monitoringinGaucherdiseaseinanon-Jewish,Caucasian cohortofGaucherdiseasepatients.PLoSOne2013;8(11):

e79732.

[71] SokołowskaB.Testsuchejkropliwdiagnostycechoroby GaucheraiNiemanna-Picka.ActaHaematolPol 2014;45:216–220.

[72] Tylki-SzymańskaA,GroenerJE,KamińskiML,ŁugowskaA, JurkiewiczE,CzartoryskaB.Gaucherdiseasedueto

saposinCdeficiency,previouslydescribedas non-neuronopathicform–nopositiveeffectsafter2-yearsof miglustattherapy.MolGenetMetab2011;104(4):

627–630.

[73] BootRG,HollakCE,VerhoekM,AlbertsC,JonkersRE,Aerts JM.PlasmachitotriosidaseandCCL18assurrogate markersforgranulomatousmacrophagesinsarcoidosis.

ClinChimActa2010;411(1–2):31–36.

[74] SteinP,YuH,JainD,MistryPK.Hyperferritinemiaandiron overloadintype1Gaucherdisease.AmJHematol 2010;85:472–476.

[75] LorenzF,PawłowiczE,KlimkowskaM,BesharaS,Bulanda BrustadA,SkotnickiAB,etal.Ferritinemiaandserum inflammatorycytokinesinSwedishadultswithGaucher diseasetype1.BloodCellsMolDis2016Oct20[Epubahead ofprint].

[76] GiuffridaG,CappelliniMD,CarubbiF,DiRoccoM,Iolascon G.ManagementofbonediseaseinGaucherdiseasetype1:

clinicalpractice.AdvTher2014;31(12):1197–1212.

[77] StowensDW,TeitelbaumSL,KahnAJ,BarrangerJA.

SkeletalcomplicationsofGaucherdisease.Medicine (Baltimore)1985;22–64.

[78] DruganC,JebeleanuG,Grigorescu-SidoP,CaillaudC, CraciunAM.Biochemicalmarkersofboneturnoveras toolsintheevaluationofskeletalinvolvementinpatients withtype1Gaucherdisease.BloodCellsMolDis 2002;28:13–20.

[79] CianaG,AddobbatiR,TamaroG,LeopaldiA,NevyjelM, RonfaniL,etal.Gaucherdiseaseandbone:laboratoryand skeletalmineraldensityvariationsduringalongperiodof enzymereplacementtherapy.JInheritMetabDis 2005;28:723–732.

[80] GiuffridaG,CingariMR,ParrinelloN,RomanoA,TrioloA, FranceschinoM,etal.Boneturnovermarkersinpatients withtype1Gaucherdisease.HematolRep2012;4:e21.

[81] MachaczkaM,Markuszewska-KuczyńskaA,RegenthalS, JurczyszynA,GałązkaK,WahlinBE,etal.Clinicalutilityof differentbonemarrowexaminationmethodsinthe diagnosisofadultswithsporadicGaucherdiseasetype1.

PolArchMedWewn2014;124(11):587–592.

[82] SimpsonWL,HermannG,BalwaniM.ImagingofGaucher disease.WorldJRadiol2014;6(9):657–668.

[83] RosenthalDI,ScottJA,BarrangerJ,MankinHJ,SainiS, BradyTJ,etal.EvaluationofGaucherdiseaseusing magneticresonanceimaging.JBoneJointSurgAm1986;68 (6):802–808.

[84] TerkMR,DardashtiS,LiebmanHA.Bonemarrowresponse intreatedpatientswithGaucherdisease:evaluationby T1-weightedmagneticresonanceimagesandcorrelation withreductioninliverandspleenvolume.SkeletalRadiol 2000;29(10):563–571.

[85] PollLW,KochJA,vomDahlS,WillersR,SchererA,Boerner D,etal.Magneticresonanceimagingofbonemarrow changesinGaucherdiseaseduringenzymereplacement therapy:firstGermanlong-termresults.SkeletalRadiol 2001;30(9):496–503.

[86] VliegerEJ,MaasM,AkkermanEM,HollakCE,DenHeeten GJ.Vertebradiscratioasaparameterforbonemarrow involvementanditsapplicationinGaucherdisease.J ComputAssistTomogr2002;26(5):843–848.

[87] MaasM,vanKuijkC,StokerJ,HollakCE,AkkermanEM, AertsJF,etal.Quantificationofboneinvolvementin Gaucherdisease:MRimagingbonemarrowburdenscore asanalternativetoDixonquantitativechemicalshiftMR imaging-initialexperience.Radiology2003;229(2):554–

561.

[88] RocaM,MotaJ,AlfonsoP,PocovíM,GiraldoP.S-MRIscore:

Asimplemethodforassessingbonemarrowinvolvement inGaucherdisease.EurJRadiol2007;62(1):132–137.

[89] PollLW,CoxML,GodehardtE,SteinhofV,vomDahlS.

WholebodyMRIintypeIGaucherpatients:evaluationof skeletalinvolvement.BloodCellsMolDis2011;46(1):53–59.

[90] vomDahlS,PollL,DiRoccoM,CianaG,DenesC,MarianiG, etal.Evidence-basedrecommendationsformonitoringbone diseaseandtheresponsetoenzymereplacementtherapyin Gaucherpatients.CurrMedResOpin2006;22(6):1045–1064.

[91] NazzarenoG,HumbertM,VachieryJ,GibbsS,LangI, TorbickiA,etal.WytyczneESC/ERSdotyczące

rozpoznawaniaileczenianadciśnieniapłucnegow2015 roku.KardiolPol2015;73(12):1127–1206.

[92] GajewskiP,SzczeklikA.InternaSzczeklika-Podręcznik choróbwewnętrznych2016.Warszawa:Medycyna Praktyczna;2016.

[93] BeutlerE.Gaucherdisease:multiplelessonsfromasingle genedisorder.ActaPaediatrSuppl2006;95(451):103–109.

[94] RingdenO,GrothCG,EriksonA,BäckmanL,GranqvistS, MånssonJE,etal.Long-termfollow-upofthefirst successfulbonemarrowtransplantationinGaucher disease.Transplantation1988;46:66–70.

[95] BartonNW,BradyRO,DambrosiaJM,DiBisceglieAM, DoppeltSH,HillSC,etal.Replacementtherapyfor inheritedenzymedeficiency–macrophagetargeted glucocerebrosidaseforGaucher’sdisease.NEnglJMed 1991;324:1464–1470.

[96] LebowitzJH.Abreachintheblood-brainbarrier.ProcNatl AcadSciUSA2005;102(41):14485–14486.

[97] PastoresGM,RosenbloomB,WeinrebN,Goker-AlpanO, GrabowskiG,CohnGM,etal.Amulticenteropen-label treatmentprotocol(HGT-GCB-058)ofvelaglucerasealfa enzymereplacementtherapyinpatientswithGaucher diseasetype1:safetyandtolerability.GenetMed2014;16 (5):359–366.

[98] RosenbaumH.ManagementofwomenwithGaucher diseaseinthereproductiveage.ThrombRes2015;135 (Suppl1):S49–S51.

[99] LauH,Belmatoug2,DeeganP,Goker-AlpanO,Schwartz IV,ShankarSP,etal.Reportedoutcomesof453

pregnanciesinpatientswithGaucherdisease:Ananalysis fromtheGaucheroutcomesurvey.BloodCellsMolDis 2016Oct20[Epubaheadofprint].

[100]GrabowskiGA,AndriaG,BaldellouA,CampbellPE, CharrowJ,CohenIJ,etal.Pediatricnon-neuronopathic Gaucherdisease:presentation,diagnosisandassessment.

Consensusstatements.EurJPediatr2004;163(2):58–66.

[101]WeinrebNJ,CharrowJ,AnderssonHC,KaplanP,Kolodny EH,MistryP,etal.Effectivenessofenzymereplacement therapyin1028patientswithtype1Gaucherdiseaseafter 2to5yearsoftreatment:areportfromtheGaucher Registry.AmJMed2002;113(2):112–119.

[102]RosenthalDI,DoppeltSH,MankinHJ,DambrosiaJM, XavierRJ,McKusickKA,etal.Enzymereplacement therapyforGaucherdisease:skeletalresponsesto macrophage-targetedglucocerebrosidase.Pediatrics1995 Oct;96(4Pt1):629–637.

[103]WenstrupRJ,KacenaKA,KaplanP,PastoresGM, Prakash-ChengA,ZimranA,etal.Effectofenzymereplacement therapywithimigluceraseonBMDintype1Gaucher disease.JBoneMinerRes2007;22(1):119–126.

[104]ZimranA,AbrahamovA,ElsteinD.ChildrenwithtypeI Gaucherdisease:growingintoadulthoodwithand withoutenzymetherapy.IsrMedAssocJ2000;2(2):80–81.

[105]StarzykK,RichardsS,YeeJ,SmithSE,KingmaW.The long-terminternationalsafetyexperienceofimiglucerase therapyforGaucherdisease.MolGenetMetab2007;90 (2):157–163.

[106]GrabowskiGA,GolemboM,ShaaltielY.Taliglucerasealfa:

anenzymereplacementtherapyusingplantcell expressiontechnology.MolGenetMetab2014;112:1–8.

[107]GrabowskiGA,KacenaK,ColeJA,HollakCE,ZhangL,Yee J,etal.Dose-responserelationshipsforenzyme

replacementtherapywithimiglucerase/alglucerasein patientswithGaucherdiseasetype1.GenetMed2009;11 (2):92–100.

[108]WeinrebNJ,GoldblattJ,VillalobosJ,CharrowJ,ColeJA, KerstenetzkyM,etal.Long-termclinicaloutcomesintype 1Gaucherdiseasefollowing10yearsofimiglucerase treatment.JInheritMetabDis2013;36:543–553.

[109]ZimranA,AltarescuG,PhilipsM,AttiasD,JmoudiakM, DeebM,etal.Phase1/2andextensionstudyof

velaglucerasealfareplacementtherapyinadultswithtype 1Gaucherdisease:48-monthexperience.Blood2010;115 (23):4651–4656.

[110]BenTurkiaH,GonzalezDE,BartonNW,ZimranA,Kabra M,LukinaEA,etal.Velaglucerasealfaenzyme

replacementtherapycomparedwithimiglucerasein patientswithGaucherdisease.AmJHematol2013;88 (3):179–184.

[111]GonzalezDE,TurkiaHB,LukinaEA,KisinovskyI,DridiMF, ElsteinD,etal.Enzymereplacementtherapywith velaglucerasealfainGaucherdisease:Resultsfroma randomized,double-blind,multinational,Phase3study.

AmJHematol2013;88(3):166–171.

[112]ZimranA,WangN,OggC,CrombezE,CohnGM,ElsteinD.

Seven-yearsafetyandefficacywithvelaglucerasealfafor treatment-naïveadultpatientswithtype1Gaucher disease.AmJHematol2015;90(7):577–583.

[113]HughesDA,GonzalezDE,LukinaEA,MehtaA,KabraM, ElsteinD,etal.Velaglucerasealfa(VPRIV)enzyme replacementtherapyinpatientswithGaucherdisease:

Long-termdatafromphaseIIIclinicaltrials.AmJHematol 2015;90(7):584–591.

[114]SmithL,RheadW,CharrowJ,ShankarSP,BavdekarA, LongoN,etal.Long-termvelaglucerasealfatreatmentin childrenwithGaucherdiseasetype1naïvetoenzyme replacementtherapyorpreviouslytreatedwith imiglucerase.MolGenetMetab2016;117(2):164–171.

[115]PastoresGM,ShankarSP,PetakovM,GiraldoP, RosenbaumH,AmatoDJ,etal.Enzymereplacement therapywithtaliglucerasealfa:36-monthsafetyand efficacyresultsinadultpatientswithGaucherdisease previouslytreatedwithimiglucerase.AmJHematol 2016;91(7):661–665.

[116]CoxTM,AmatoD,HollakCE,LuzyC,SilkeyM,GiorginoR, etal.,MiglustatMaintenanceStudyGroup.Evaluationof miglustatasmaintenancetherapyafterenzymetherapy inadultswithstabletype1Gaucherdisease:aprospective, open-labelnon-inferioritystudy.OrphanetJRareDis 2012;7:102.

[117]MachaczkaM,HastR,DahlmanI,LernerR,KlimkowskaM, EngvallM,etal.Substratereductiontherapywithmiglustat fortype1Gaucherdisease:aretrospectiveanalysisfroma singleinstitution.UpsJMedSci2012;117:28–34.

[118]SchiffmannR,FitzgibbonEJ,HarrisC,DeVileC,DaviesEH, AbelL,etal.Randomized,controlledtrialofmiglustatin Gaucher’sdiseasetype3.AnnNeurol2008;64(5):514–522.

[119]ScottLJ.Eliglustat:AReviewinGaucherDiseaseType1.

Drugs2015;75(14):1669–1678.

[120]ShaymanJA.Thedesignandclinicaldevelopmentof inhibitorsofglycosphingolipidsynthesis:willinventionbe themotherofnecessity?TransAmClinClimatolAssoc 2013;124:46–60.

[121]MistryPK,LukinaE,BenTurkiaH,AmatoD,BarisH, DasoukiM,etal.Effectoforaleliglustatonsplenomegaly inpatientswithGaucherdiseasetype1:theENGAGE randomizedclinicaltrial.JAMA2015;313(7):695–706.

[122]CoxTM,DrelichmanG,CravoR,BalwaniM,BurrowTA, MartinsAM,etal.Eliglustatcomparedwithimiglucerase

inpatientswithGaucher’sdiseasetype1stabilisedon enzymereplacementtherapy:aphase3,randomised, open-label,non-inferioritytrial.Lancet2015;385 (9985):2355–2362.

[123]PastoresGM,WeinrebNJ,AertsH,AndriaG,CoxTM,Giralt M,etal.TherapeuticgoalsinthetreatmentofGaucher disease.SeminHematol2004;41(4Suppl.5):4–14.

[124]PiranS,RobertsA,PattersonMA,AmatoD.Theclinical courseofuntreatedGaucherdiseasein22patientsover10 years:hematologicalandskeletalmanifestations.Blood CellsMolDis2009;43(3):289–293.

[125]WeinrebNJ,FinegoldDN,FeingoldE,ZengZ,Rosenbloom

[125]WeinrebNJ,FinegoldDN,FeingoldE,ZengZ,Rosenbloom

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