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World J Gastroenterol. Mar 14, 2012; 18(10): 1067-1076
Published online Mar 14, 2012. doi: 10.3748/wjg.v18.i10.1067
Published online Mar 14, 2012. doi: 10.3748/wjg.v18.i10.1067
Differential diagnosis in patients with suspected bile acid synthesis defects
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, Georg F Hoffmann, Jürgen G Okun, Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Heidelberg D-69120, Germany
Tilman Rohrer, Department of Pediatric Endocrinology and Diabetology, University Hospital Saarland, Homburg D-66421, Germany
Guido Engelmann, Department of General Pediatrics, Gastroenterology, University Children’s Hospital, Heidelberg D-69120, Germany
Maura Heverin, Karolinska Institute, Karolinska University Hospital Huddinge, Huddinge 14186, Sweden
David W Russell, Department of Molecular Genetics, UT Southwestern Medical Center, Dallas, TX 75390-9046, United States
Peter T Clayton, Clinical and Molecular Genetics Unit, Institute of Child Health, London WC1N 1EH, United Kingdom
Author contributions: Haas D participated in the design of the study, was involved in the clinical evaluation of patients and drafted the manuscript; Gan-Schreier H and Langhans CD established the ESI-MS/MS method; Rohrer T and Engelmann G were involved in the clinical evaluation of patients; Heverin M determined 3β-hydroxy-Δ5-C27-steroid-dehydrogenase activity in fibroblasts; Russell DW carried out the molecular genetic studies; Clayton PT provided samples of patients affected with known disorders of bile acid metabolism; Hoffmann GF made substantial contributions to conception and interpretation of the study; Okun JG conceived of the study, participated in its design and coordination and helped to draft the manuscript.
Supported by Grants from the United States National Institutes of Health (GM069338 and HL20948) awarded to Russell DW
Correspondence to: Dr. Dorothea Haas, Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Im Neuenheimer Feld 430, Heidelberg D-69120, Germany. dorothea.haas@med.uni-heidelberg.de
Telephone: +49-6221-5639330 Fax: +49-6221-565565
Received: May 3, 2011
Revised: November 17, 2011
Accepted: December 10, 2011
Published online: March 14, 2012
Revised: November 17, 2011
Accepted: December 10, 2011
Published online: March 14, 2012
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