Literature DB >> 18367963

Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.

Isao Ueki1, Akihiko Kimura, Atsushi Nishiyori, Huey-Ling Chen, Hajime Takei, Hiroshi Nittono, Takao Kurosawa.   

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Year:  2008        PMID： 18367963     DOI： 10.1097/MPG.0b013e31815a9911

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  20 in total

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

Authors:  Dongling Dai; Philippa B Mills; Emma Footitt; Paul Gissen; Patricia McClean; Jens Stahlschmidt; Isabelle Coupry; Julie Lavie; Fanny Mochel; Cyril Goizet; Tatsuki Mizuochi; Akihiko Kimura; Hiroshi Nittono; Karin Schwarz; Peter J Crick; Yuqin Wang; William J Griffiths; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2014-09       Impact factor: 4.982

Review 2.  Human cytochromes P450 in health and disease.

Authors:  Daniel W Nebert; Kjell Wikvall; Walter L Miller
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2013-01-06       Impact factor: 6.237

Review 3.  Disorders of bile acid synthesis.

Authors:  Peter Theodore Clayton
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

4.  Genetic connections between neurological disorders and cholesterol metabolism.

Authors:  Ingemar Björkhem; Valerio Leoni; Steve Meaney
Journal:  J Lipid Res       Date:  2010-05-13       Impact factor: 5.922

5.  Hepatic bile acid metabolism in the neonatal hamster: expansion of the bile acid pool parallels increased Cyp7a1 expression levels.

Authors:  Katie T Burke; Paul S Horn; Patrick Tso; James E Heubi; Laura A Woollett
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2009-04-23       Impact factor: 4.052

Review 6.  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

7.  Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Authors:  Rebecca Schüle; Teepu Siddique; Han-Xiang Deng; Yi Yang; Sandra Donkervoort; Magnus Hansson; Ricardo E Madrid; Nailah Siddique; Ludger Schöls; Ingemar Björkhem
Journal:  J Lipid Res       Date:  2009-10-07       Impact factor: 5.922

Review 8.  CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.

Authors:  Ashlee R Stiles; Jeffrey G McDonald; David R Bauman; David W Russell
Journal:  J Biol Chem       Date:  2009-08-16       Impact factor: 5.157

Review 9.  Cytochromes p450: roles in diseases.

Authors:  Irina A Pikuleva; Michael R Waterman
Journal:  J Biol Chem       Date:  2013-04-30       Impact factor: 5.157

10.  A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.

Authors:  Andrea E DeBarber; Jenny Luo; Michal Star-Weinstock; Subhasish Purkayastha; Michael T Geraghty; John Pei-Wen Chiang; Louise S Merkens; Anuradha S Pappu; Robert D Steiner
Journal:  J Lipid Res       Date:  2013-11-02       Impact factor: 5.922
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