title: 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.
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.
authors.affiliation: Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA. merkensl@ohsu.edu
authors.forename: Louise S
authors.initials: LS
authors.lastname: Merkens
authors.forename: Christopher
authors.initials: C
authors.lastname: Wassif
authors.forename: Kristy
authors.initials: K
authors.lastname: Healy
authors.forename: Anuradha S
authors.initials: AS
authors.lastname: Pappu
authors.forename: Andrea E
authors.initials: AE
authors.lastname: DeBarber
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Penfield
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Lindsay
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Roullet
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
mesh_terms: D001921:Brain / Q000378:metabolism*; D002784:Cholesterol / Q000096:biosynthesis*; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D009316:National Institutes of Health (U.S.); D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000473:pathology* / Q000628:therapy; D014481:United States
chemical_list: D002784:Cholesterol