Niemann-Pick disease type C
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Descrição
Niemann-Pick disease type C is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by impaired cellular trafficking of cholesterol and sphingolipids and caused by mutations in either the NPC1 or NPC2 gene. The age of presentation is highly variable, ranging from the…
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Niemann-Pick disease type C1 is a sphingosine storage disease that
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The pathogenesis of Niemann–Pick type C disease: a role for
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