tailieunhanh - Psychosis in an adolescent girl: A common manifestation in Niemann-Pick Type C disease

Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric symptoms. | Psychosis in an adolescent girl: A common manifestation in Niemann-Pick Type C disease

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