medsynapse-hcp
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
<div>Advances in Pediatric Diagnosis of Niemann Pick Disease Type C</div>

Advances in Pediatric Diagnosis of Niemann Pick Disease Type C

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