Associated Papers
Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.
Nguyen DQ et al.
Medicine, 2024
Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.
Nittono H et al.
Frontiers in Pediatrics, 2024
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Setchell KD et al.
Gastroenterology, 2013
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