Literature DB >> 2897546

3-Oxo-delta 4 bile acids in liver disease.

P T Clayton, E Patel, A M Lawson, R A Carruthers, M S Tanner, B Strandvik, B Egestad, J Sjövall.   

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Year:  1988        PMID： 2897546     DOI： 10.1016/s0140-6736(88)92104-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  19 in total

1.  Developmental pattern of 3-oxo-delta 4 bile acids in neonatal bile acid metabolism.

Authors:  T Inoue; A Kimura; K Aoki; M Tohma; H Kato
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1997-07       Impact factor: 5.747

2.  Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

Authors:  Jason E Drury; Rebekka Mindnich; Trevor M Penning
Journal:  J Biol Chem       Date:  2010-06-03       Impact factor: 5.157

3.  An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets.

Authors:  A K Akobeng; P T Clayton; V Miller; M Super; A G Thomas
Journal:  Arch Dis Child       Date:  1999-05       Impact factor: 3.791

4.  Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.

Authors:  K D Setchell; F J Suchy; M B Welsh; L Zimmer-Nechemias; J Heubi; W F Balistreri
Journal:  J Clin Invest       Date:  1988-12       Impact factor: 14.808

5.  [Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].

Authors:  Ying Cheng; Li Guo; Mei Deng; Yuan-Zong Song
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-07

6.  Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.

Authors:  H Ichimiya; H Nazer; T Gunasekaran; P Clayton; J Sjövall
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

7.  Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Authors:  Yoshitaka Seki; Tatsuki Mizuochi; Akihiko Kimura; Tomoyuki Takahashi; Akira Ohtake; Shin-Ichi Hayashi; Toshiya Morimura; Yasuharu Ohno; Takayuki Hoshina; Kenji Ihara; Hajime Takei; Hiroshi Nittono; Takao Kurosawa; Keiko Homma; Tomonobu Hasegawa; Toyojiro Matsuishi
Journal:  J Inherit Metab Dis       Date:  2012-11-16       Impact factor: 4.982

8.  Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

Authors:  H A Lemonde; E J Custard; J Bouquet; M Duran; H Overmars; P J Scambler; P T Clayton
Journal:  Gut       Date:  2003-10       Impact factor: 23.059

9.  Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.

Authors:  A Kimura; K H Kondo; K I Okuda; S Higashi; M Suzuki; T Kurosawa; M Tohma; T Inoue; A Nishiyori; M Yoshino; H Kato; T Setoguchi
Journal:  Eur J Pediatr       Date:  1998-05       Impact factor: 3.183

Review 10.  Mechanisms of disease: Inborn errors of bile acid synthesis.

Authors:  Shikha S Sundaram; Kevin E Bove; Mark A Lovell; Ronald J Sokol
Journal:  Nat Clin Pract Gastroenterol Hepatol       Date:  2008-06-24
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