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  • A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
database_cross_reference
  • url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease
  • url:https://www.ncbi.nlm.nih.gov/pubmed/10521380
  • url:https://www.ncbi.nlm.nih.gov/pubmed/20920215
  • url:https://www.ncbi.nlm.nih.gov/pubmed/3430059
  • url:https://www.ncbi.nlm.nih.gov/pubmed/3792776
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