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Gaucher's Disease

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BASIC WBC Disorders Martha Mind Map on Gaucher's Disease, created by Martha Richardson on 22/11/2013.
Martha Richardson
Mind Map by Martha Richardson, updated more than 1 year ago More Less
Sylvia Smith
Created by Sylvia Smith over 10 years ago
Martha Richardson
Copied by Martha Richardson over 10 years ago
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Resource summary

Gaucher's Disease
  1. Autosomal recessive disorder
    1. Single-gene mutation
    2. Abnormal facial features
      1. Liver enlargement
        1. European Jewish
          1. Prenatal counseling
            1. Genetic screening
            2. No cure
              1. Supportive therapy
                1. Severe manifestations
                2. Enzyme replacement therapy
                  1. Biosyntheitc enzyme material
                    1. Limited quantities
                    2. Bone marrow transplantation
                    3. Bone marrow cell
                      1. Large
                        1. Rod-shaped inclusions
                          1. Crinkled tissue paper
                        2. Lipid storage disease
                          1. Missing enzyme B-Glucocerebrosidase
                            1. Undigested metabolic accumulation
                          2. Infant-to-adult onset
                            1. Infant onset
                              1. More severe
                                1. Shorter life-span

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