Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence

BACKGROUND: Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied t...

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Autors principals: Okada, Tomoo, Miyashita, Michio, Fukuhara, Junji, Sugitani, Masahiko, Ueno, Takahiro, Samson-Bouma, Marie-Elisabeth, Aggerbeck, Lawrence P
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3284428/
https://ncbi.nlm.nih.gov/pubmed/22104167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-78
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