Clinical case 5

1. S Sundaram, K E Bove, M A Lovell, R J Sokol. Mechanisms of disease: inborn errors of bile acid synthesis. Nature Reviews Gastroenterology & Hepatology, 2008 (5), 456-468.

2. E Gonzales, M F Gerhardt, M Fabre, K D R Setchell, A Davit-Spraul, et al. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology, 2009 (137), 1310-1320.

3. P T Clayton. Disorders of bile acid synthesis. Journal of inherited metabolic disease, 2011 (34-vol3), 593-604.

4. E Gonzales, L Matarazzo, S Franchi-Abella, A Dabadie, J Cohenn et al. Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood. Orphanet Journal of Rare Diseases, 2018 (13), 190.

5. J Jahnel, E Zohrer, B Fischler, L D’Antiga, D Debray, A Dezsofi, et al. Attempt to determine the prevalence of two inborn errors of primary bile acid synthesis: results of a european survey. JPGN, 2017 (64), 864–868.