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
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