Literature DB >> 9266374

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

R J Wanders1, G J Romeijn, F Wijburg, R C Hennekam, J de Jong, R A Wevers, G Dacremont.   

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Year:  1997        PMID： 9266374     DOI： 10.1023/a:1005371104822

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


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  10 in total

1.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors:  D W SMITH; L LEMLI; J M OPITZ
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

Authors:  M Irons; E R Elias; G Salen; G S Tint; A K Batta
Journal:  Lancet       Date:  1993-05-29       Impact factor: 79.321

3.  Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.

Authors:  A Honda; G S Tint; G Salen; A K Batta; T S Chen; S Shefer
Journal:  J Lipid Res       Date:  1995-07       Impact factor: 5.922

4.  First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).

Authors:  K Mills; H Mandel; R Montemagno; P Soothill; R Gershoni-Baruch; P T Clayton
Journal:  Pediatr Res       Date:  1996-05       Impact factor: 3.756

5.  Effects of BM 15.766 on serum lipids in rats.

Authors:  J Pill; F H Schmidt; K Stegmeier; E C Witte
Journal:  Horm Metab Res       Date:  1985-10       Impact factor: 2.936

6.  Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.

Authors:  E Malle; K Oettl; W Sattler; G Hoefler; G M Kostner
Journal:  Eur J Clin Invest       Date:  1995-01       Impact factor: 4.686

7.  Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome.

Authors:  E Lund; L Starck; N Venizelos
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

8.  Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authors:  G S Tint; M Irons; E R Elias; A K Batta; R Frieden; T S Chen; G Salen
Journal:  N Engl J Med       Date:  1994-01-13       Impact factor: 91.245

9.  The effects of BM 15.766, an inhibitor of 7-dehydrocholesterol delta 7-reductase, on cholesterol biosynthesis in primary rat hepatocytes.

Authors:  J Aufenanger; J Pill; F H Schmidt; K Stegmeier
Journal:  Biochem Pharmacol       Date:  1986-03-15       Impact factor: 5.858

10.  Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Authors:  S Shefer; G Salen; A K Batta; A Honda; G S Tint; M Irons; E R Elias; T C Chen; M F Holick
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808
  10 in total
  2 in total

1.  A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans.

Authors:  Niek C A van de Pas; Ruud A Woutersen; Ben van Ommen; Ivonne M C M Rietjens; Albert A de Graaf
Journal:  J Lipid Res       Date:  2012-09-29       Impact factor: 5.922

2.  Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Authors:  H R Waterham; F A Wijburg; R C Hennekam; P Vreken; B T Poll-The; L Dorland; M Duran; P E Jira; J A Smeitink; R A Wevers; R J Wanders
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025
  2 in total

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