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
1996
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease
Mistry P, Wraight E, Cox T. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. The Lancet 1996, 348: 1555-1559. PMID: 8950883, DOI: 10.1016/s0140-6736(96)04451-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseBone marrowType 1 Gaucher's diseaseActivity of glucocerebrosidaseReceptor-mediated uptakeAcid beta-glucosidase activityAnalysis of bloodAvid uptakeBolus injectionHigh doseGaucher cellsHealthy individualsTracer enzymeGamma scintigraphyReceptor activityMacrophage systemDiseaseLysosomal disordersPlacental enzymeTissue distributionHigh-affinity targetingSaturable uptakePrimary defectScintigraphyVivo