Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

References

• BeutlerEGrabowskiGAScriverCRBeudetALSlyWSGaucher diseaseThe Metabolic and Molecular Basis of Inherited DiseaseNew YorkMcGraw-Hill200136353668
   Google Scholar
• HruskaKSLaMarcaMEScottCRSidranskyEGaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Hum Mutat200829556758318338393
   PubMed Web of Science ®Google Scholar
• Goker-AlpanOHruskaKSOrviskyEDivergent phenotypes in Gaucher disease implicate the role of modifiersJ Med Genet2005426e3715937077
   PubMed Web of Science ®Google Scholar
• KnudsonAGKaplanWDAronsonSMVolkBWGenetics of the sphingolipidosesCerebral SphingolipidosesNew YorkAcademic Press1962395
   Google Scholar
• GrabowskiGAHorowitzMGaucher’s disease: molecular, genetic and enzymological aspectsBaillieres Clin Haematol19971046356569497856
   PubMed Web of Science ®Google Scholar
• AzuriJElsteinDLahadAAbrahamovAHadas-HalpernIZimranAAsymptomatic Gaucher disease implications for large-scale screeningGenet Test19982429729910464607
   PubMedGoogle Scholar
• FairleyCZimranAPhillipsMPhenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher RegistryJ Inherit Metab Dis200831673877744
   Web of Science ®Google Scholar
• KaplanPAnderssonHCKacenaKAThe clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosisArch Pediatr Adolesc Med2006160660360816754822
   PubMed Web of Science ®Google Scholar
• StowensDWTeitelbaumSLKahnAJSkeletal complications of Gaucher’s diseaseMedicine19856453103224033409
   PubMed Web of Science ®Google Scholar
• HermannGGoldblattJLevyRNGoldsmithSJDesnickRJGrabowskiGAGaucher’s disease type 1: assessment of bone involvement by CT and scintigraphyAJR Am J Roentgenol198614759439483490167
   PubMed Web of Science ®Google Scholar
• MaasMHollakCEAkkermanEMAertsJMStokerJDen HeetenGJQuantification of skeletal involvement in adults with type I Gaucher’s disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameterAJR Am J Roentgenol2002179496196512239046
   PubMed Web of Science ®Google Scholar
• NeudorferOGiladiNElsteinDOccurrence of Parkinson’s syndrome in type I Gaucher diseaseQ J Med199689691694
   Google Scholar
• LwinAOrviskyEGoker-AlpanOLaMarcaMESidranskyEGlucocerebrosidase mutations in subjects with parkinsonismMol Genet Metab2004811707314728994
   PubMed Web of Science ®Google Scholar
• PastoresGMMusculoskeletal complications encountered in the lysosomal storage disordersBest Pract Res Clin Rheumatol200822593794719028373
   PubMed Web of Science ®Google Scholar
• BiegstraatenMvan SchaikINAertsJMHollakCE‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literatureJ Inherit Metab Dis200831333734918404411
   PubMed Web of Science ®Google Scholar
• BradyROBartonNWGrabowskiGAThe role of neurogenetics in Gaucher diseaseArch Neurol19935011121212248215980
   PubMedGoogle Scholar
• BeutlerEGelbartTHematologically important mutations: Gaucher diseaseBlood Cells Mol Dis1998241289516376
   PubMed Web of Science ®Google Scholar
• StoneDLCareyWFChristodoulouJType 2 Gaucher disease: the collodion baby phenotype revisitedArch Dis Child Fetal Neonatal Ed2000822F163F16610685993
   PubMed Web of Science ®Google Scholar
• MignotCDoummarDMaireIDe VillemeurTBFrench Type 2 Gaucher Disease Study GroupType 2 Gaucher disease: 15 new cases and review of the literatureBrain Dev2006281394816485335
   PubMed Web of Science ®Google Scholar
• Tylki-SzymañskaAKeddacheMGrabowskiGACharacterization of neuronopathic Gaucher disease among ethnic PolesGenet Med20068181516418594
   PubMed Web of Science ®Google Scholar
• PattersonMCHorowitzMAbelRBIsolated horizontal supra-nuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s diseaseNeurology19934310199319978413956
   PubMed Web of Science ®Google Scholar
• AbrahamovAElsteinDHorowitzMA new Gaucher disease variant characterized by progressive calcification of heart valves and unique genotypeLancet19953468981100010037475546
   PubMed Web of Science ®Google Scholar
• Goker-AlpanOSchiffmannRParkJKStubblefieldBKTayebiNSidranskyEPhenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3J Pediatr2003143227327612970647
   PubMed Web of Science ®Google Scholar
• HollakCEMvan WeelySvan OersMHJAertsJMFGMarked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher diseaseJ Clin Invest1994933128812928132768
   PubMed Web of Science ®Google Scholar
• BootRGVerhoekMde FostMMarked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic interventionBlood20041031333912969956
   PubMed Web of Science ®Google Scholar
• DeDuveCFrom cytases to lysosomesFed Proc1964231045104914209796
   PubMedGoogle Scholar
• PentchevPGBradyROHibbertSIsolation and characterization of glucocerebrosidase from human placental tissueJ Biol Chem197324815525652614768898
   PubMed Web of Science ®Google Scholar
• FurbishFSOliverKLZirzowGCUptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylationBiochim Biophys Acta198167344254346784774
   PubMed Web of Science ®Google Scholar
• AchordDTBrotFEBellCEHuman beta-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cellsCell1978151269278699046
   PubMed Web of Science ®Google Scholar
• BartonNWBradyRODambrosiaJMReplacement therapy for inherited enzyme deficiency – macrophage-targeted glucocerebrosidase for Gaucher’s diseaseN Engl J Med199132421146414702023606
   PubMed Web of Science ®Google Scholar
• GrabowskiGABartonNMPastoresGEnzyme therapy in Gaucher disease type 1: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sourcesAnn Int Med1995122133397985893
   PubMed Web of Science ®Google Scholar
• ZimranAElsteinDLevy-LahadEReplacement therapy with imiglucerase for type 1 Gaucher’s diseaseLancet19958963345147914807769903
   PubMed Web of Science ®Google Scholar
• PatlasMHadas-HalpernIAbrahamovAZimranAElsteinDRepeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 yearsHematol J200231172011960391
   PubMedGoogle Scholar
• PatlasMHadas-HalpernIAbrahamovAElsteinDZimranASpectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher diseaseEur Radiol200212239740011870441
   PubMed Web of Science ®Google Scholar
• HollakCECorssmitEPAertsJMDifferential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher diseaseAm J Med199710331851919316550
   PubMed Web of Science ®Google Scholar
• TerkMRDardashtiSLiebmanHABone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volumeSkeletal Radiol2000291056357111127678
   PubMed Web of Science ®Google Scholar
• LorberboymMPastoresGMKimCKHermannGGlajchenNMachacJScintigraphic monitoring of reticuloendothelial system in patients with type 1 Gaucher disease on enzyme replacement therapyJ Nucl Med19973868908959189137
   PubMed Web of Science ®Google Scholar
• HollakCMaasMAkkermanEden HeetenAAertsHDixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher diseaseBlood Cells Mol Dis20012761005101211831867
   PubMed Web of Science ®Google Scholar
• HermannGPastoresGMAbdelwahabIFLorberboymAMGaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacementSkeletal Radiol199726126876969453101
   PubMed Web of Science ®Google Scholar
• Vom DahlSPollLDi RoccoMEvidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patientsCurr Med Res Opin20062261045106416846538
   PubMed Web of Science ®Google Scholar
• RobertsonPLMaasMGoldblattJSemiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher’s disease using the bone marrow burden scoreAJR Am J Roentgenol200718861521152817515371
   PubMed Web of Science ®Google Scholar
• CianaGMartiniCLeopaldiABone marker alterations in patients with type 1 Gaucher diseaseCalcif Tissue Int200372318518912522660
   PubMed Web of Science ®Google Scholar
• WenstrupRJKacenaKAKaplanPEffect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher diseaseJ Bone Miner Res200722111912617032149
   PubMed Web of Science ®Google Scholar
• ElsteinDKlutsteinMWLahadAAbrahamovAHadas-HalpernIZimranAEchocardiographic assessment of pulmonary hypertension in Gaucher’s diseaseLancet199835191151544154610326537
   PubMed Web of Science ®Google Scholar
• MasekBJSimsKBBoveCMKorsonMSShortPNormanDKQuality of life assessment in adults with type 1 Gaucher diseaseQual Life Res19998326326810472157
   PubMed Web of Science ®Google Scholar
• ElsteinDGuedaliaJDonigerGMComputerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reductionGenet Med20057212413015714080
   PubMed Web of Science ®Google Scholar
• BaldellouAAndriaGCampbellPEPaediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoringEur J Pediatr20041632677514677062
   PubMed Web of Science ®Google Scholar
• Goker-AlpanOWiggsEAEblanMJCognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseJ Pediatr20081531899418571543
   PubMed Web of Science ®Google Scholar
• CharrowJAnderssonHCKaplanPThe Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher diseaseArch Intern Med2000160182835284311025794
   PubMed Web of Science ®Google Scholar
• WeinrebNJIntroduction. Advances in Gaucher disease: Therapeutic goals and evaluation and monitoring guidelinesSemin Hematol2004414 Suppl 51315468044
   PubMed Web of Science ®Google Scholar
• PastoresGMWeinrebNJAertsHTherapeutic goals in the treatment of Gaucher diseaseSemin Hematol2004414 Suppl 541415468045
   PubMed Web of Science ®Google Scholar
• WeinrebNTaylorJCoxTYeeJA benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imigluceraseAmer J Hematol2008831289089518819093
   PubMed Web of Science ®Google Scholar
• CharrowJDulisseBGrabowskiGAWeinrebNJThe effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher diseaseClin Genet200771320521117309642
   PubMed Web of Science ®Google Scholar
• AnderssonHKaplanPKacenaKYeeJEight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1Pediatrics200812261182119019047232
   PubMed Web of Science ®Google Scholar
• CzartoryskaBTylki-SzymańskaAGórskaDSerum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT)Clin Biochem19983154174209721443
   PubMed Web of Science ®Google Scholar
• DeeganPBMoranMTMcFarlaneIClinical evaluation of chemokine and enzymatic biomarkers of Gaucher diseaseBlood Cells Mol Dis200535225926716125420
   PubMed Web of Science ®Google Scholar
• RosenthalDIDoppeltSHMankinHJEnzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidasePediatrics1995964 Pt 16296377567322
   PubMed Web of Science ®Google Scholar
• PollLWMaasMTerkMRResponse of Gaucher bone disease to enzyme replacement therapyBr J Radiol200275Suppl 1A25A3612036830
   PubMed Web of Science ®Google Scholar
• de FostMHollakCEGroenerJESuperior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysisBlood2006108383083516527890
   PubMed Web of Science ®Google Scholar
• FleshnerPRAufsesAHJrGrabowskiGAEliasRA 27-year experience with splenectomy for Gaucher’s diseaseAm J Surg1991161169751987860
   PubMed Web of Science ®Google Scholar
• ZimranAElsteinDSchiffmannROutcome of partial splenectomy for type I Gaucher diseaseJ Pediatr199512645965977699540
   PubMed Web of Science ®Google Scholar
• ZimranAAbrahamovAElsteinDChildren with type I Gaucher disease: growing into adulthood with and without enzyme therapyIsr Med Assoc J200022808110804921
   PubMed Web of Science ®Google Scholar
• WenstrupRJRoca-EspiauMWeinrebNJBembiBSkeletal aspects of Gaucher disease: a reviewBr J Radiol200275Suppl 1A2A1212036828
   PubMed Web of Science ®Google Scholar
• WenstrupRJKacenaKAKaplanPEffect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher diseaseJ Bone Miner Res200722111912617032149
   PubMed Web of Science ®Google Scholar
• SimsKBPastoresGMWeinrebNJImprovement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort studyClin Genet200873543044018312448
   PubMed Web of Science ®Google Scholar
• FleurenceRLIglesiasCPJohnsonJMThe cost effectiveness of bisphosphonates for the prevention and treatment of osteoporosis: a structured review of the literaturePharmacoeconomics2007251191393317960951
   PubMed Web of Science ®Google Scholar
• WenstrupRJBaileyLGrabowskiGAGaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapyBlood200410451253125715010365
   PubMed Web of Science ®Google Scholar
• ArnheimEChiccoGPhillipsMMolecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone densityRheumatol Int200828987387718317771
   PubMed Web of Science ®Google Scholar
• HůlkováHLedvinováJPoupetová HKohoutAMalinováVEllederMAutopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage processJ Inherit Metab Dis2009626 [Epub ahead of print]
   Web of Science ®Google Scholar
• BeutlerEKayASavenAEnzyme replacement therapy for Gaucher diseaseBlood1991785118311891878585
   PubMed Web of Science ®Google Scholar
• PastoresGMSibilleARGrabowskiGAEnzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 monthsBlood19938224084168392397
   PubMed Web of Science ®Google Scholar
• TakahashiTYoshidaYSatoWEnzyme therapy in Gaucher disease type 2: an autopsy caseTohoku J Exp Med1998186214314910223617
   PubMed Web of Science ®Google Scholar
• AltarescuGHillSWiggsEThe efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s diseaseJ Pediatr2001138453954711295718
   PubMed Web of Science ®Google Scholar
• MistryPKSirrsSChanAPulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapyMol Genet Metab2002771–2919812359135
   PubMed Web of Science ®Google Scholar
• BoveKEDaughertyCGrabowskiGAPathological findings in Gaucher disease type 2 patients following enzyme therapyHum Pathol1995269104010457672788
   PubMed Web of Science ®Google Scholar
• DaviesEHEriksonACollin-HistedTMengelETylki-SzymanskaAVellodiAOutcome of type III Gaucher disease on enzyme replacement therapy: review of 55 casesJ Inherit Metab Dis200730693594217994286
   PubMed Web of Science ®Google Scholar
• StarzykKRichardsSYeeJSmithSEKingmaWThe long-term international safety experience of imiglucerase therapy for Gaucher diseaseMol Genet Metab200790215716317079176
   PubMed Web of Science ®Google Scholar
• ZimranAHollakCEAbrahamovAvan OersMHKellyMBeutlerEHome treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patientsBlood1993824110711098353277
   PubMed Web of Science ®Google Scholar
• MilliganAHughesDGoodwinSRichfieldLMehtaAIntravenous enzyme replacement therapy: better in home or hospital?Br J Nurs200615633033316628169
   PubMedGoogle Scholar
• ElsteinDGranovsky-GrisaruSRabinowitzRKanaiRAbrahamovAZimranAUse of enzyme replacement therapy for Gaucher disease during pregnancyAm J Obstet Gynecol19971776150915129423759
   PubMed Web of Science ®Google Scholar
• ZimranAMorrisEMengelEThe female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause)Blood Cells Mol Dis200965 [Epub ahead of print]
   Web of Science ®Google Scholar
• WeinrebNJCharrowJAnderssonHCEffectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher RegistryAm J Med200211311211912133749
   PubMed Web of Science ®Google Scholar
• LangeveldMde FostMAertsJMSauerweinHPHollakCEOverweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapyBlood Cells Mol Dis200840342843217950007
   PubMed Web of Science ®Google Scholar
• HalperinAElsteinDZimranAAre symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?Acta Neurol Scand2007115427527817376127
   PubMed Web of Science ®Google Scholar
• SidranskyEGinnsEIWestmanJAEhmannWCPathologic fractures may develop in Gaucher patients receiving enzyme replacement therapyAm J Hematol19944732472497942798
   PubMed Web of Science ®Google Scholar
• IdaHRennertOMKatoSSevere skeletal complications in Japanese patients with type 1 Gaucher diseaseJ Inherit Metab Dis1999221637310070619
   PubMed Web of Science ®Google Scholar
• AvinerSLevyYYanivICohenIJAnaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patientBlood Cells Mol Dis1999252929410389590
   PubMed Web of Science ®Google Scholar
• TaddeiTHKacenaKAYangMThe underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patientsAm J Hematol200984420821419260119
   PubMed Web of Science ®Google Scholar
• WeinrebNJDeeganPKacenaKALife expectancy in Gaucher disease type 1Am J Hematol2008831289690018980271
   PubMed Web of Science ®Google Scholar
• de FostMLangeveldMFranssenRLow HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular diseaseAtherosclerosis2009204126727218842264
   PubMed Web of Science ®Google Scholar
• ZimranAIlanYElsteinDEnzyme replacement therapy for mild patients with Gaucher diseaseAm J Hematol200984420220419229987
   PubMed Web of Science ®Google Scholar
• BeutlerEGarberAMAlglucerase for Gaucher’s disease: dose, costs and benefitsPharmacoeconomics19945645345910147261
   PubMed Web of Science ®Google Scholar
• WhittingtonRGoaKLAlglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher’s diseasePharmacoeconomics199571639010155294
   PubMed Web of Science ®Google Scholar
• BeutlerEDosage-response in the treatment of Gaucher disease by enzyme replacement therapyBlood Cells Mol Dis200026430330611042031
   PubMed Web of Science ®Google Scholar
• ElsteinDAbrahamovAHadas-HalpernIZimranAWithdrawal of enzyme replacement therapy in Gaucher’s diseaseBr J Haematol2000110248849210971413
   PubMed Web of Science ®Google Scholar
• GrinzaidKAGellerEHannaSLElsasLJ2ndCessation of enzyme replacement therapy in Gaucher diseaseGenet Med20024642743312509713
   PubMed Web of Science ®Google Scholar
• AnderssonHCCharrowJKaplanPIndividualization of long-term enzyme replacement therapy for Gaucher diseaseGenet Med20057210511015714077
   PubMed Web of Science ®Google Scholar
• BeutlerELysosomal storage diseases: natural history and ethical and economic aspectsMol Genet Metab200688320821516515872
   PubMed Web of Science ®Google Scholar
• KesselmanIElsteinDIsraeliAChertkoffRZimranANational health budgets for expensive orphan drugs: Gaucher disease in Israel as a modelBlood Cells Mol Dis2006371464916824774
   PubMed Web of Science ®Google Scholar
• ZimranALovedayKFratazziCElsteinDA pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher diseaseBlood Cells Mol Dis200739111511817391996
   PubMed Web of Science ®Google Scholar
• AviezerDBrill-AlmonEShaaltielYA plant-derived recombinant human glucocerebrosidase enzyme – a preclinical and phase I investigationPLoS ONE200943e479219277123
   PubMed Web of Science ®Google Scholar
• RadinNSTreatment of Gaucher disease with enzyme inhibitorGlyco J199613153157
   PubMed Web of Science ®Google Scholar
• PastoresGMElsteinDHrebícekMZimranAEffect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studiesClin Ther20072981645165417919546
   PubMed Web of Science ®Google Scholar
• CoxTMAertsJMAndriaGThe role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statementJ Inherit Metab Dis200326651352614605497
   PubMed Web of Science ®Google Scholar
• ElsteinDDweckAAttiasDOral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacementBlood200711072296230117609429
   PubMed Web of Science ®Google Scholar
• SchiffmannRFitzgibbonEJHarrisCRandomized, controlled trial of miglustat in Gaucher’s disease type 3Ann Neurol200864551452219067373
   PubMed Web of Science ®Google Scholar
• CapabloJLFrancoRde CabezónASAlfonsoPPocoviMGiraldoPNeurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combinationEpilepsia20074871406140817433057
   PubMed Web of Science ®Google Scholar
• SawkarARChengWCBeutlerEWongCHBalchWEKellyJWChemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher diseaseProc Natl Acad Sci U S A20029924154281543312434014
   PubMed Web of Science ®Google Scholar
• RonIHorowitzMER retention and degradation as the molecular basis underlying Gaucher disease heterogeneityHum Mol Genet2005142387239816000318
   PubMed Web of Science ®Google Scholar
• DesnickRJEnzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approvalExpert Opin Biol Ther2004471167117615268683
   PubMed Web of Science ®Google Scholar
• ChangHHAsanoNIshiiSIchikawaYFanJQHydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patientsFEBS J2006273174082409216934036
   PubMed Web of Science ®Google Scholar
• TropakMBKornhaberGJRigatBAIdentification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometryChembiochem20089162650266218972510
   PubMed Web of Science ®Google Scholar
• MaegawaGHTropakMBButtnerJDIdentification and characterization of ambroxol as an enzyme-enhancement agent for Gaucher diseaseJ Biol Chem200973 [Epub ahead of print]
   Web of Science ®Google Scholar
• RatjenFWönneRPosseltHGStöverBHofmannDBenderSWA double-blind placebo controlled trial with oral ambroxol and N-acetylcysteine for mucolytic treatment in cystic fibrosisEur J Pediatr198514443743783908111
   PubMed Web of Science ®Google Scholar
• Laoag-FernandezJBFernandezAMMaruoTAntenatal use of ambroxol for the prevention of infant respiratory distress syndromeJ Obstet Gynaecol Res200026430731211049243
   PubMedGoogle Scholar
• RigatBMahuranDDiltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cellsMol Genet Metab200996422523219167257
   PubMed Web of Science ®Google Scholar
• ElsteinDAbrahamovAZimranAEthical considerations for enzyme replacement therapy in neuronopathic Gaucher diseaseClin Genet199841791849788718
   PubMed Web of Science ®Google Scholar
• GrabowskiGAPerspectives on gene therapy for lysosomal storage diseases that affect hematopoiesisCurr Hematol Rep20032435636212901334
   PubMedGoogle Scholar
• RingdénOGrothCGEriksonALong-term follow-up of the first successful bone marrow transplantation in Gaucher diseaseTransplantation198846166703134756
   PubMed Web of Science ®Google Scholar
• RingdénOGrothCGEriksonATen years’ experience of bone marrow transplantation for Gaucher diseaseTransplantation19955968648707701581
   PubMed Web of Science ®Google Scholar
• DunbarCKohnDRetroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease. A phase I studyHum Gene Ther1996722312538788174
   PubMed Web of Science ®Google Scholar
• BarrangerJARiceEODuniganJGaucher’s disease: studies of gene transfer to haematopoietic cellsBaillieres Clin Haematol19971047657789497863
   PubMed Web of Science ®Google Scholar
• EnquistIBNilssonEMånssonJEEhingerMRichterJKarlssonSSuccessful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher diseaseStem Cells200927374475219056909
   PubMed Web of Science ®Google Scholar