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- Challenges in Managing Niemann Pick Disease Type C: Recognition, Access, and Long-Term Care

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Medical Article
Introduction Niemann Pick Disease Type C (NPC) is an ultra-rare, autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes, leading to disrupted lipid metabolism and progressive cellular dysfunction (1). With an incidence of approximately 1 in 100,000 live births, the disease presents with a wide clinical spectrum

Challenges in Managing Niemann Pick Disease Type C: Recognition, Access, and Long-Term Care
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