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Medical Article
Introduction Niemann Pick Disease Type C (NPC) is a progressive, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2, leading to abnormal lipid accumulation and multi-system dysfunction. Pediatric onset is common, presenting with hepatosplenomegaly in infancy or with ataxia, dystonia, and psychiatric symptoms in adole

Advances in Pediatric Diagnosis of Niemann Pick Disease Type C
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