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This Concept Map, created with IHMC CmapTools, has information related to: Gauchers, Gaucher's Disease confirmed by characteristic finding of Gaucher cells, IVS2 + 1g is a G to A mutation iwthin splice-donor site of intron 2, RBC ???? anemia, membranes of many tissues including red and white blood cells which are cleared by ????, glucocerebroside normally found in membranes of many tissues including red and white blood cells, 4 y/o daughter diagnosed with Gaucher's Disease, Gaucher's Disease confirmed by WBC b-glucosidase assay, Gaucher's Disease is inherited as homoallelic and heteroallelic, Ashkenazic Jewish parents have a 4 y/o daughter, accumulation of glucocerebroside forming characteristic finding of Gaucher cells, spleen causes Splenomegaly, characteristic finding of Gaucher cells located in Bone Marrow, Gaucher's Disease which causes a deficiency of Beta-glucocerebrosidase, Gaucher's Disease confirmed by Elevated serum acid phosphatase, WBC b-glucosidase assay shows 81% reduction in normal enzymatic activity, characteristic finding of Gaucher cells which are mononuclear cells of macrohage-reticuloendothelial system, 4 y/o daughter blood work shows hemoglobin conc of 12.5g/dL, characteristic finding of Gaucher cells located in spleen, WBC results in Leukopenia, heterozygous for N370S and IVS2 + 1g--> in which IVS2 + 1g