Chylomicron retention disease: a long term study of two cohorts
N Peretti, CC Roy, A Sassolas, C Deslandres… - Molecular genetics and …, 2009 - Elsevier
Lipoprotein assembly is critical for the intestinal absorption of dietary lipids and of fat-soluble
vitamins. Through their inhibition of chylomicron secretion, mutations of the Sar1B gene
coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). The aim
of this study was to describe the phenotypic expression of CRD in two clinically and
genetically well characterized cohorts, and to compare their long term evolution. The study
in 7 children from France (X¯ age 11.3±1.7 years) and 9 from Quebec, Canada (X¯ age …
vitamins. Through their inhibition of chylomicron secretion, mutations of the Sar1B gene
coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). The aim
of this study was to describe the phenotypic expression of CRD in two clinically and
genetically well characterized cohorts, and to compare their long term evolution. The study
in 7 children from France (X¯ age 11.3±1.7 years) and 9 from Quebec, Canada (X¯ age …
