Niemann-Pick type c disease: pathogenesis and therapy
<p>Niemann-Pick disease Type C is a rare, lysosomal storage disorder caused by defects in either <em>NPC1</em> (95% of cases) or <em>NPC2</em>, and characterized by progressive neurodegeneration that ultimately results in premature death. The function of the NPC1 protei...
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2016
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