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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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| Publicado no: | Case Rep Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4334435/ https://ncbi.nlm.nih.gov/pubmed/25722898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/347342 |
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