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Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive di...

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Detalles Bibliográficos
Autores principales:	Lin, Patrick, Raikar, Sheela, Jimenez, Jennifer, Conard, Katrina, Furuya, Katryn N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334435/ https://www.ncbi.nlm.nih.gov/pubmed/25722898 http://dx.doi.org/10.1155/2015/347342

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