Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

• Main Authors: Leen Jamel Doya (Author), Lava Mohammad (Author), Razan Omran (Author), Alexander Ali Ibrahim (Author), Nizar Yousef (Author), Ali Ibrahim (Author), Mohammad Adib Houreih (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation...