2012
Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.
Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.Peer-Reviewed Original ResearchConceptsGaucher diseaseType 2 Gaucher's diseaseDisease state awarenessNon-neuronopathic diseaseVariable neurologic manifestationsRisk of complicationsType 3 diseaseCentral nervous systemExpert roundtable discussionQuality of lifeLysosomal enzyme glucocerebrosidaseRange of signsSkeletal complicationsLysosomal storage disorderNeurologic complicationsNeurologic manifestationsAshkenazi Jewish descentHematologic manifestationsHematologic sequelaeOcular effectsAccumulation of glycolipidsOncology cliniciansDifferential diagnosisAppropriate treatmentEarly diagnosis
2008
Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists
Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.Peer-Reviewed Original ResearchDisease management algorithmsDifferential diagnosisGaucher diseaseImiglucerase enzyme replacement therapyDiagnostic algorithmType 1 Gaucher diseaseMajority of patientsPresence of splenomegalyMinority of patientsSimple diagnostic algorithmRisk of malignancyEnzyme replacement therapySubstrate reduction therapyBeta-glucocerebrosidase activityAshkenazi Jewish backgroundPresenting manifestationSkeletal complicationsDiagnostic delaySuch patientsHaematologic malignanciesIrreversible complicationsMultiple myelomaProtean manifestationsReplacement therapyDiagnostic challenge
2007
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention. American Journal Of Hematology 2007, 82: 697-701. PMID: 17492645, DOI: 10.1002/ajh.20908.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyDiagnostic delayGaucher diseaseType 1 Gaucher diseaseLife-threatening manifestationsLife-threatening complicationsSeries of patientsSevere disease manifestationsSurvey of patientsSevere complicationsReplacement therapyMultiple myelomaClassic symptomsFinal diagnosisDisease manifestationsDifferential diagnosisEarly diagnosisCorrect diagnosisPhysician educationPatientsAnecdotal experienceComplicationsDiagnosisSymptomsGD symptoms