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This Concept Map, created with IHMC CmapTools, has information related to: Gaucher, Symptoms include Bruising, Avascular Necrosis causing Fragile/Fracture Prone Bones, Thrombocytopenia can cause Epistaxis, B-Glucocerebrosidase into Ceramide, Mother with genotype N370S Mutation (heterozygous), B-Glucocerebrosidase specific for Macrophage Uptake, Gauchers Diseases (Displays autosomal recessive inheritance) is a dysfunction of B-Glucocerebrosidase, Child (heteroallelic for N370S IVS2+1 and G to A) has Symptoms, Child (heteroallelic for N370S IVS2+1 and G to A) treated with Ceredase, Macrophages broken down by Lysosomes, B-Glucocerebrosidase leading to a build up of Glucocrebroside (commonly found in cell membranes of Red Blood Cells), Pre-Mature Destruction of WBC, Platelets causing Thrombocytopenia, Symptoms include Fragile/Fracture Prone Bones, B-Glucocerebrosidase into Glucose, Father with genotype IVS2+1 and G to A Mutation (heterozygous), Symptoms include Anemia, N370S Mutation (heterozygous) have Child (heteroallelic for N370S IVS2+1 and G to A), Disease Severity not indicated by Homoallelic vs. Heteroallelic, Pre-Mature Destruction of RBC