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