Niemann-Pick Disease

bondsjc0710
Mind Map by , created almost 6 years ago

Mind Map on Niemann-Pick Disease, created by bondsjc0710 on 11/21/2013.

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bondsjc0710
Created by bondsjc0710 almost 6 years ago
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Niemann-Pick Disease
1 Autosomal C Recessive
1.1 Ashkenazi Jews
2 Missing Spingomyelinase
3 Clinical Presentation
3.1 Varies
3.2 Hepatolmegaly
3.3 CNS Involvement
4 Lab Presentation
4.1 Large round cells
4.2 Lipid accumulation
5 Supportive therapy only
5.1 Enzyme Replacement
5.2 Bone Marrow Transplant