Chylomicron retention disease

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Chylomicron retention disease
Classification and external resources
OMIM 246700
DiseasesDB 33188

Chylomicron retention disease is a disorder of fat absorption.[1] It is associated with SAR1B.[2]


  1. ^ Roy CC, Levy E, Green PH et al. (February 1987). "Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease". Gastroenterology 92 (2): 390–9. PMID 3792776. 
  2. ^ Jones B, Jones EL, Bonney SA et al. (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.