Article
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
Orphanet journal of rare diseases - 21 Nov 2011
Okada Tomoo, Miyashita Michio, Fukuhara Junji, Sugitani Masahiko, Ueno Takahiro, Samson-Bouma Marie-Elisabeth, Aggerbeck Lawrence P
Abstract excerpt
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 to date exhibit a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex...
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