Literature DB >> 7684480

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

M Irons, E R Elias, G Salen, G S Tint, A K Batta.   

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Year:  1993        PMID: 7684480     DOI: 10.1016/0140-6736(93)90983-n

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


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  81 in total

1.  Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome.

Authors:  A K Batta; G Salen
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

Review 2.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

3.  Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response.

Authors:  W T O'Brien; G Xu; G S Tint; G Salen; R J Servatius
Journal:  Integr Physiol Behav Sci       Date:  2000 Apr-Jun

Review 4.  Malformation syndromes due to inborn errors of cholesterol synthesis.

Authors:  Forbes D Porter
Journal:  J Clin Invest       Date:  2002-09       Impact factor: 14.808

Review 5.  The ins and outs of cholesterol in the vertebrate retina.

Authors:  Steven J Fliesler; Lionel Bretillon
Journal:  J Lipid Res       Date:  2010-09-22       Impact factor: 5.922

Review 6.  The role of cholesterol in rod outer segment membranes.

Authors:  Arlene D Albert; Kathleen Boesze-Battaglia
Journal:  Prog Lipid Res       Date:  2005-03-09       Impact factor: 16.195

7.  Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.

Authors:  Libin Xu; Zeljka Korade; Dale A Rosado; Karoly Mirnics; Ned A Porter
Journal:  J Lipid Res       Date:  2013-02-04       Impact factor: 5.922

8.  Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Authors:  I Blahakova; E Makaturova; L Kotrbova; M Soukupova; J Lastuvkova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

9.  The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols.

Authors:  G S Tint; Hongwei Yu; Quan Shang; Guorong Xu; Shailendra B Patel
Journal:  J Lipid Res       Date:  2006-05-01       Impact factor: 5.922

Review 10.  Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors:  E Roessler; M Muenke
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

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