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
1996
The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide
Byrne CD, Wareham NJ, Mistry PK, Phillips D, Martensz ND, Halsall D, Talmud PJ, Humphries SE, Hales CN. The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide. Atherosclerosis 1996, 127: 35-42. PMID: 9006802, DOI: 10.1016/s0021-9150(96)05932-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedApolipoproteins BBiological TransportChylomicronsDNAFatty Acids, NonesterifiedGene DeletionGenotypeHumansImmunoradiometric AssayLipoproteins, VLDLMaleMiddle AgedMyocardial IschemiaPolymerase Chain ReactionPolymorphism, GeneticPostprandial PeriodPrevalenceProtein Sorting SignalsReference ValuesTriglyceridesUltracentrifugationConceptsIschemic heart diseaseFat tolerance testApo B signal peptideFFA concentrationsTolerance testFree fatty acid responsesLower HDL-cholesterol concentrationsFree fatty acid concentrationsHDL cholesterol concentrationsTriglyceride-rich lipoprotein concentrationsHealthy Caucasian menApo B signal peptide genotypesTriglyceride-rich lipoproteinsPost-prandial stateYears of ageFatty acid responsesOnly significant determinantCaucasian manLipoprotein concentrationsFatty acid concentrationsHeart diseaseCholesterol concentrationsSignificant associationGenotype groupsCommon deletion polymorphism