Abstract
Background and Aims : Chylomicron retention disease (CRD) is a rare autosomal recessive disorder, in which intestinal fat malabsorption is the main cause of diverse severe manifestations. The specific molecular defect was identified in 2003 and consists of mutations in the SAR1B gene encoding for intracellular SAR1B GTPase protein which is involved in chylomicron transport from the endoplasmic reticulum (ER) to the Golgi apparatus.
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