Associated Papers
[Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review].
Zhang YQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N et al.
Journal of Lipid Research, 2021
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L et al.
Gene, 2013
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Peretti N et al.
Orphanet Journal of Rare Diseases, 2010
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.
Treepongkaruna S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
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