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