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Niemann-Pick Disease

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BASIC WBC Disorders Martha Mind Map on Niemann-Pick Disease, created by Martha Richardson on 22/11/2013.
Martha Richardson
Mind Map by Martha Richardson, updated more than 1 year ago More Less
bondsjc0710
Created by bondsjc0710 about 11 years ago
Martha Richardson
Copied by Martha Richardson about 11 years ago
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Resource summary

Niemann-Pick Disease
  1. Autosomal C Recessive
    1. Ashkenazi Jews
    2. Missing Spingomyelinase
      1. Clinical Presentation
        1. Varies
          1. Hepatolmegaly
            1. CNS Involvement
            2. Lab Presentation
              1. Large round cells
                1. Lipid accumulation
                2. Supportive therapy only
                  1. Enzyme Replacement
                    1. Bone Marrow Transplant

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