Case Report
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World J Gastroenterol. Jul 7, 2012; 18(25): 3322-3326
Published online Jul 7, 2012. doi: 10.3748/wjg.v18.i25.3322
Diagnosis in bile acid-CoA: Amino acid N-acyltransferase deficiency
Nedim Hadžić, Laura N Bull, Peter T Clayton, AS Knisely
Nedim Hadžić, Paediatric Liver Service and Institute of Liver Studies, King’s College Hospital, London SE5 9RS, United Kingdom
Laura N Bull, Liver Center Laboratory, University of California San Francisco, San Francisco, CA 94110, United States
Peter T Clayton, Biochemistry Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1 N1EH, United Kingdom
AS Knisely, Institute of Liver Studies, King’s College Hospital, London SE5 9RS, United Kingdom
Author contributions: Hadžić N supervised clinical care; Bull LN performed genetic analyses; Clayton PT performed bile-acid analyses; Knisely AS performed histopathologic analyses and wrote the first draft of the manuscript.
Supported by Great Ormond Street Hospital Children’s Charity, to Clayton PT; National Institutes of Health; and Grant R01 DK58214, to Bull LN
Correspondence to: AS Knisely, MD, Institute of Liver Studies, King’s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom. alex.knisely@kcl.ac.uk
Telephone: +44-203-2994627 Fax: +44-203-2993125
Received: December 17, 2011
Revised: March 28, 2012
Accepted: May 26, 2012
Published online: July 7, 2012
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