2009
Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease.
Mistry P, Deegan P, Vellodi A, Cole J, Yeh M, Weinreb N. Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease. Blood 2009, 114: 1353. DOI: 10.1182/blood.v114.22.1353.1353.Peer-Reviewed Original ResearchAvascular necrosisUntreated patientsIncidence rateGenzyme CorporationType 1 Gaucher diseaseType 1 Gaucher's diseaseGroup of patientsHigh incidence rateICGG Gaucher RegistryGD1 patientsMost patientsGaucher RegistrySerious complicationsPerson yearsPatient's dateRisk factorsInclusion criteriaHigh riskMRI resultsPatientsPrimary siteTherapeutic interventionsGaucher diseaseSplenectomyEpidemiologic analysis
2006
Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention.
Mistry P, Sadan S, Yang R, Yee J, Yang M. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. Blood 2006, 108: 3308. DOI: 10.1182/blood.v108.11.3308.3308.Peer-Reviewed Original ResearchDiagnostic delayHematologists/oncologistsGaucher diseaseBone painPreventable complicationsClassic symptomsFinal diagnosisProgressive lysosomal storage diseaseType 1 Gaucher's diseaseHematology/oncology specialistsChronic bone painJoint/boneN370S/N370SLife-threatening complicationsSeries of patientsLife-threatening sepsisSurvey of patientsSymptoms of patientsConstellation of symptomsAppearance of symptomsBone crisesLeg painPathological fracturesPathologic fractureSerious complications