2008
Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease.
DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. American Journal Of Roentgenology 2008, 191: 115-23. PMID: 18562733, PMCID: PMC3731993, DOI: 10.2214/ajr.07.3550.Peer-Reviewed Original ResearchConceptsBone marrow burden scoreEnzyme replacement therapyBurden scoreBone marrow diseaseSpleen statusReplacement therapyGaucher diseaseN370S alleleCumulative durationPathologic findingsLiver volumeMarrow diseaseSignificant positive correlationBone marrow burdenCorrelation of MRIN370S homozygotesUntreated diseaseClinical parametersPositive correlationLiver sizeProtective roleAmeliorative effectSignificant associationGreater riskDisease
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