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Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

  • Published:2001-03 Issue:3 Volume:42 Page:366-371
  • ISSN:0022-2275
  • Container-title:Journal of Lipid Research
  • language:en
  • Short-container-title:Journal of Lipid Research

Author:

Björkhem Ingemar,Starck Lena,Andersson Ulla,Lütjohann Dieter,von Bahr Sara,Pikuleva Irina,Babiker Amir,Diczfalusy Ulf

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference29 articles.

1. A newly recognized syndrome of multiple congenital anomalies;Smith;J. Pediatr.,1964

2. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome;Tint;N. Engl. J. Med.,1994

3. The SLO syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step of cholesterol biosynthesis;Tint,1997

4. Mutations in the human sterol ▵7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome;Wassif;Am. J. Hum. Genet.,1998

5. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene;Waterham;Am. J. Hum. Genet.,1998
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