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
2000
The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients
Scott C, Pastores G, Andersson H, Charrow J, Kaplan P, Kolodny E, Mistry P, Rosenbloom B, Wappner R, Weinreb N. The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients. Genetics In Medicine 2000, 2: 65-65. DOI: 10.1097/00125817-200001000-00059.Peer-Reviewed Original ResearchN370S/N370SN370S/L444PNeurologic symptomsL444P/L444PL444P/L444P genotypeCommon genotypeLarger spleen volumeSevere neurologic symptomsAortic valve calcificationCommon lysosomal storage diseaseDeficiency of glucocerebrosidaseRadiologic evidenceClinical symptomsValve calcificationHematologic changesSpleen volumeClinical signatureClinical expressionBone diseaseLysosomal storage diseaseN370S allelePatientsAdult disordersBone fracturesGaucher disease