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This Concept Map, created with IHMC CmapTools, has information related to: Gaucher's, Father has IV52+1G to A mutation, spleen begin to prematurely destroy platelets, lack of breakdown of sphingolipids, platelets resulting in low platelets, genetic history that reveals parents' N370S allele, ceredase which is an enzyme replacement, Mother who are Ashkenazi Jews, ceramide normally breaks down to fatty acids, ceredase which compensates for reduced activity of beta-glucocerebrosidase, IV52+1G to A mutation which is a G to A change, lysozomes of spleen, aggregates which accumulates, 4 year old daughter whose lab tests, bruises consistent with Type 1, deletion of exon2, spleen begin to prematurely destroy WBCs, spleen begin to prematurely destroy RBCs, ceramide normally breaks down to sphingosine, work up shows Hemoglobin 12.5g/dL, reduced activity of beta-glucocerebrosidase resulting in lack of breakdown