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Treatment of Bile Acid Amidation Defects with Glycocholic Acid

Bile acid amidation defects were predicted to present with fat/fat soluble vitamin malabsorption with minimal cholestasis. We identified and treated 5 patients (1 male/4 females) from 4 families with defective bile acid amidation due to a genetically confirmed deficiency in bile acid CoA:amino acid...

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Vydáno v:Hepatology
Hlavní autoři: Heubi, James E., Setchell, Kenneth D.R., Jha, Pinky, Buckley, Donna, Zhang, Wujuan, Rosenthal, Philip, Potter, Carol, Horslen, Simon, Suskind, David
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4280294/
https://ncbi.nlm.nih.gov/pubmed/25163551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.27401
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