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Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

BACKGROUND: Niemann-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 gene is involved in 95% cases where as remaining ~...

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Detalles Bibliográficos
Autores principales:	Sheth, Jayesh, Joseph, Jijo John, Shah, Krati, Muranjan, Mamta, Mistri, Mehul, Sheth, Frenny
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240394/ https://www.ncbi.nlm.nih.gov/pubmed/28095804 http://dx.doi.org/10.1186/s12881-017-0367-x

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