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Article

Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.

Gastroenterology - 1 May 2013

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

Abstract excerpt

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 bile acid conjugation in 10 pediatric patients with fat-soluble vitamin deficiency, some with growth failure or...

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Identifiers

PMID: 23415802
DOI: 10.1053/j.gastro.2013.02.004
PMCID: PMC4175397

Genes

BAAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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