Niemann–Pick disease type C
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Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's"[1]) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people.[2] Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.
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Niemann–Pick disease, type C | |
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Niemann–Pick disease, type C is associated with NPC1 mutations | |
Specialty | Endocrinology, neurology |
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