Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Author:

Dai Dongling,Mills Philippa B.,Footitt Emma,Gissen Paul,McClean Patricia,Stahlschmidt Jens,Coupry Isabelle,Lavie Julie,Mochel Fanny,Goizet Cyril,Mizuochi Tatsuki,Kimura Akihiko,Nittono Hiroshi,Schwarz Karin,Crick Peter J.,Wang Yuqin,Griffiths William J.,Clayton Peter T.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference37 articles.

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2. Andersson S, Gustafsson N, Warner M, Gustafsson JA (2005) Inactivation of liver X receptor beta leads to adult-onset motor neuron degeneration in male mice. Proc Natl Acad Sci U S A 102:3857–3862

3. Axelson M, Mörk B, Aly A et al (1989) Concentrations of cholestenoic acids in plasma from patients with liver disease. J Lipid Res 30:1877–1882

4. Björkhem I, Eggertsen G (2001) Genes involved in initial steps of bile acid synthesis. Curr Opin Lipidol 12:97–103

5. Cao G, Liang Y, Broderick CL et al (2003) Antidiabetic action of a liver x receptor agonist mediated by inhibition of hepatic gluconeogenesis. J Biol Chem 278:1131–1136

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