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

Internet

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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