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Niemann-Pick Disease

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Mind Map on Niemann-Pick Disease, created by bondsjc0710 on 21/11/2013.
bondsjc0710
Mind Map by bondsjc0710, updated more than 1 year ago
bondsjc0710
Created by bondsjc0710 over 10 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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