Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: Summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

Louise S. Merkens, Christopher Wassif, Kristy Healy, Anuradha S. Pappu, Andrea E. DeBarber, Jennifer A. Penfield, Rebecca A. Lindsay, Jean Baptiste Roullet, Forbes D. Porter, Robert D. Steiner

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

In June 2007, the Smith-Lemli-Opitz/RSH Foundation held a scientific conference hosted jointly by Dr. Robert Steiner from Oregon Health & Science University and Dr. Forbes D. Porter from The Eunice Kennedy Shriver National Institute for Child Health and Human Development, National Institutes of Health. The main goal of this meeting was to promote interaction between scientists with expertise in cholesterol homeostasis, brain cholesterol metabolism, developmental biology, and oxysterol and neurosteroid biochemistry, clinicians researching and treating patients with Smith-Lemli-Opitz syndrome, the patient support organization and families. This report summarizes the presentations and discussions at the conference, represents the conference proceedings, and is intended to foster collaborative research and ultimately improve understanding and treatment of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol synthesis.

Original languageEnglish (US)
Pages (from-to)359-364
Number of pages6
JournalGenetics in Medicine
Volume11
Issue number5
DOIs
StatePublished - May 1 2009

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Keywords

  • CHILD syndrome
  • Cholesterol
  • Cholesterol transport
  • Hedgehog proteins
  • Mevalonate kinase deficiency
  • Neurosteroids
  • Niemann-Pick type C
  • Oxysterols
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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