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This Concept Map, created with IHMC CmapTools, has information related to: Biochem A1 Gaucher's Disease, platelet causing thrombocytopenia, glucocerebrosidase leads to accumulation of glucocerebroside, hepatomegaly leading to premature destruction of RBC, Type 1 Gaucher's Disease diagnosed by WBC Beta glucosidase assay, 81% reduction in glucocerebrosidase, Ashkenazic 4 y.o. daughter presents w/ anemia, thrombocytopenia which is reduced platelet counts, heterozygous for N370S allelic variant, accumulation of Gaucher cells in bone marrow, accumulation of Gaucher cells in spleen, splenomegaly leading to premature destruction of WBC, Ashkenazic 4 y.o. daughter who is therefore heteroallelic, N370S allelic variant protects against neuropathic variant symptoms, hepatomegaly leading to premature destruction of WBC, Ashkenazic father is heterozygous, glucocerebrosidase resulting in reduced WBC glucosidase activity, heteroallelic for Type 1 Gaucher's Disease, IVS2+1G to A allelic variant passed on to Ashkenazic 4 y.o. daughter, glucocerebrosidase which normally catalyzes the breakdown of glucocerebroside, Ashkenazic 4 y.o. daughter treated w/ ceredase