Bile Acids and Cholestatic Liver Disease 3: Inborn Errors of Bile Acid Synthesis
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Publisher
Springer Japan
Link
http://link.springer.com/content/pdf/10.1007/978-4-431-56062-3_9
Reference22 articles.
1. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34:593–604.
2. Sundaram S, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008;5:456–68.
3. Setchell KDR, O’Connell NC. Disorders of bile acid synthesis and metabolism: a metabolic basis for liver disease. In: Suchy FJ, Sokol RJ, Balistereri WF, editors. Liver disease in children. New York: Cambridge University Press; 2007. p. 736–66.
4. Muto A, Takei H, Unno A, Murai T, Kurosawa T, Ogawa S, et al. Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acids. J Chromatogr B. 2012;900:24–31.
5. Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S-I, et al. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment. J Inherit Metab Dis. 2013;36:565–73.
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