2016
Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells
Monestime G, Borger DK, Kim J, Lopez G, Allgaeuer M, Jain D, Vortmeyer A, Wang HW, Sidransky E. Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells. Molecular Genetics And Metabolism 2016, 118: 55-59. PMID: 26992326, DOI: 10.1016/j.ymgme.2016.02.008.Peer-Reviewed Original ResearchConceptsAutopsy findingsGaucher diseaseDose/durationEnzyme replacement therapySpleen statusPathological findingsReplacement therapyDisease burdenPathological studiesGaucher cellsPatientsHematological symptomsExtensive involvementTherapyParkinsonismDiseaseMultiple tissuesComplete absenceFindingsAutopsiesSymptomsPathologyBiomarkersCare
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalence