2016
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.Peer-Reviewed Original ResearchConceptsGaucher diseaseSerum levelsMelanoma BImiglucerase enzyme replacement therapyCohort of patientsEnzyme replacement therapyOverall disease severityGPNMB levelsDisease activityUntreated patientsReplacement therapyDisease miceDisease progressionIndividual patientsLarge cohortHematological diseasesStriking elevationPatientsNew biomarkersDisease pathophysiologyDisease severityDiseaseOrgan compartmentsBiomarkersDisease mechanisms
2011
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyHigh-density lipoproteinHDL cholesterolDisease severityDisease activitySpleen volumeIndividual patientsLow high-density lipoproteinLow HDL cholesterolSeverity Score IndexMonitoring of patientsGD1 patientsSerum levelsReplacement therapyLiver volumeScore indexDensity lipoproteinPatientsCholesterolSeverityChitotriosidaseBiomarkersStriking increaseImportant surrogateLipoprotein
2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher diseaseReplacement therapyLong-term enzyme replacement therapyType 1 Gaucher diseaseSubsequent dose adjustmentCommon lysosomal storage disorderExtensive clinical experienceSeverity of diseaseMultiple organ systemsQuality of lifeMannose-terminated glucocerebrosidaseImplementation of treatmentImiglucerase treatmentLysosomal storage disorderDose adjustmentPulmonary diseaseTherapeutic responseIndividual patientsTherapeutic goalsClinical experienceGrowth retardationOrgan systemsDiseasePatients
2004
Therapeutic goals in the treatment of Gaucher disease
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Therapeutic goals in the treatment of Gaucher disease. Seminars In Hematology 2004, 41: 4-14. PMID: 15468045, DOI: 10.1053/j.seminhematol.2004.07.009.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher diseaseTherapeutic responseTherapeutic goalsNon-neuronopathic (type 1) Gaucher diseaseType 1 Gaucher diseaseVariable disease patternGoal of treatmentCommon lysosomal storage disorderEvidence-based consensusExtensive clinical experienceQuality of lifeImplementation of treatmentLysosomal storage disorderPulmonary diseaseReplacement therapyMultisystem conditionIndividualized managementIndividual patientsClinical experienceDisease patternsGrowth retardationDiseaseStorage disorderSkeletal pathology
1997
12 A practical approach to diagnosis and management of Gaucher's disease
Mistry P, Abrahamov A. 12 A practical approach to diagnosis and management of Gaucher's disease. Best Practice & Research Clinical Haematology 1997, 10: 817-838. PMID: 9497866, DOI: 10.1016/s0950-3536(97)80042-x.Peer-Reviewed Original ResearchConceptsGaucher diseaseAdditional prognostic informationPeripheral blood leukocytesMaximum therapeutic responseAcid beta-glucosidase activityAdjuvant therapyDisease activityLaboratory parametersHistological diagnosisDisease progressionPrognostic informationTherapeutic responseSerial measurementsIndividual patientsBlood leukocytesChitotriosidase activityEnzyme therapyOptimal timingDiseaseTherapyDiagnosisCellular burdenTreatmentSpecial considerationBeta-glucosidase activity