Literature DB >> 8737829

Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids.

K Ullrich, H G Koch, D Meschede, U Flotmann, U Seedorf.   

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Year:  1996        PMID: 8737829     DOI: 10.1055/s-2007-973760

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


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  6 in total

Review 1.  Disorders of cholesterol biosynthesis.

Authors:  P T Clayton
Journal:  Arch Dis Child       Date:  1998-02       Impact factor: 3.791

Review 2.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

Review 3.  Smith-Lemli-Opitz syndrome.

Authors:  Andrea E DeBarber; Yasemen Eroglu; Louise S Merkens; Anuradha S Pappu; Robert D Steiner
Journal:  Expert Rev Mol Med       Date:  2011-07-22       Impact factor: 5.600

Review 4.  Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.

Authors:  Roman Chrast; Gesine Saher; Klaus-Armin Nave; Mark H G Verheijen
Journal:  J Lipid Res       Date:  2010-11-09       Impact factor: 5.922

5.  Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.

Authors:  Anna V Oláh; Gabriella P Szabó; József Varga; Lídia Balogh; Györgyi Csábi; Violetta Csákváry; Wolfgang Erwa; István Balogh
Journal:  Eur J Pediatr       Date:  2013-01-15       Impact factor: 3.183

6.  Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Authors:  B U Fitzky; M Witsch-Baumgartner; M Erdel; J N Lee; Y K Paik; H Glossmann; G Utermann; F F Moebius
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-07       Impact factor: 11.205

  6 in total

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