Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
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DOI: 10.1186/s12881-017-0367-x
Abstract: BackgroundNiemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1… read more here.
Keywords: npc2 gene; gene case; disease; type ... See more keywords