Literature DB >> 11032340

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.

V Bzdúch1, D Behúlová, L Kozák, J Skodová, E Véghová, A Dello Russo, G Corso, F Bauer.   

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Year:  2000        PMID： 11032340     DOI： 10.1023/a:1005646400244

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

Authors:  L Kozák; H Francová; E Hrabincová; D Procházková; V Jüttnerová; V Bzdúch; P Simek
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.

Authors:  P E Jira; J G de Jong; F S Janssen-Zijlstra; U Wendel; R A Wevers
Journal:  Clin Chem       Date:  1997-01       Impact factor: 8.327

3.  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

4.  Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

Authors:  G S Tint; G Salen; A K Batta; S Shefer; M Irons; E R Elias; D N Abuelo; V P Johnson; M Lambert; R Lutz
Journal:  J Pediatr       Date:  1995-07       Impact factor: 4.406
  4 in total

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