Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,Physiology
Link
https://link.springer.com/content/pdf/10.1007/s10620-020-06722-4.pdf
Reference33 articles.
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2. Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF. Δ4-3-Oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest. 1988;82:2148–2157.
3. Setchell KD, Schwarz M, O’Connell NC, et al. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7α-hydroxylase gene causes severe neonatal liver disease. J Clin Invest. 1998;102:1690–1703.
4. Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherited Metabolic Dis. 2002;25:501–513.
5. Chong CP, Mills PB, McClean P, et al. Bile acid-CoA ligase deficiency–a new inborn error of bile acid metabolism. J Inherited Metabolic Dis. 2012;35:521–530.
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