2010
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype
Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseGaucher diseaseMultiple myelomaMultiple malignanciesMultiple cancersEnzyme replacement therapy statusDiagnosis of GD1Initiation of ERTRate of splenectomySeries of patientsSystemic macrophage activationTypes of malignanciesLymphoma/leukemiaAccumulation of glucosylceramideAsplenic patientsGBA1 genotypeGD1 patientsSequential cancersFirst cancerSplenectomy statusTherapy statusNonhematologic malignanciesHematologic malignanciesIntact spleenProstate cancer
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
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