GENETIC DEFECTS IN BILE ACID CONJUGATION CAUSE FAT-SOLUBLE VITAMIN DEFICIENCY

BACKGROUND & AIMS: The final step in bile acid synthesis involves conjugation with glycine and taurine, which promotes a high intraluminal micellar concentration to facilitate lipid absorption. We investigated the clinical, biochemical, molecular, and morphologic features of a genetic defect in...

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Main Authors: Setchell, Kenneth D. R., Heubi, James E., Shah, Sohela, Lavine, Joel E., Suskind, David, Al-Edreesi, Mohammed, Potter, Carol, Russell, David W., O'Connell, Nancy C., Wolfe, Brian, Jha, Pinky, Zhang, Wujuan, Bove, Kevin E., Knisely, Alex S., Hofmann, Alan F., Rosenthal, Philip, Bull, Laura N.
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4175397/
https://ncbi.nlm.nih.gov/pubmed/23415802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2013.02.004
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