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"Niemann-Pick" "disease," type C1
- ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann-Pick disease, ...
- ... survive into adulthood.The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although ...
- ... Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J ...