Evidence map›Paper›PMID 19452638›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2009

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

Open access · bronzeAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. Drug discovery and development for rare genetic disorders.American journal of medical genetics. Part A · 2017
    Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Louise S MerkensDepartment of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA. merkensl@ohsu.edu
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
Oregon Health & Science University · USUnited States Department of Health and Human Services · US

Funding

Inborn Errors of Cholesterol SynthesisZIAHD000139 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2009 to 2019
$11.7M
Dietary Cholesterol and Defects in Cholesterol SynthesisR01HL073980 · NHLBI · OREGON HEALTH & SCIENCE UNIVERSITY · PI STEINER, ROBERT DAVID · 2003 to 2013
$4.5M
Clinical Investigations of Smith-Lemli-Opitz SyndromeZIAHD008825 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2009 to 2019
$2.2M
Intramural NIH HHS ZIA HD000139Intramural NIH HHS ZIA HD008825NHLBI NIH HHS R01 HL073980NHLBI NIH HHS R01 HL073980 03S1
6 · The paper itself

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.

Indexed as

BrainCholesterolGenetic TherapyHumansNational Institutes of Health (U.S.)Smith-Lemli-Opitz SyndromeUnited StatesCholesterol

Identifiers

PMID19452638
PMCPMC2884390
OpenAlexW2075813703

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.