Niemann-Pick Disease

Description

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