Niemann–Pick disease type C · Medical condition · YYNN

Niemann–Pick disease type C

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Medical condition

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Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

scientific article

Identification of HE1 as the second gene of Niemann-Pick C disease

scientific article

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

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Niemann–Pick disease

nervous system heredodegenerative disease

eye degenerative disease

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