ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2012
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Statins for Smith-Lemli-Opitz syndrome.The Cochrane database of systematic reviews · 2022Pooled it
- Repurposing the HMG-CoA reductase inhibitor atorvastatin for SRD5A3-congenital disorder of glycosylation.Communications medicine · 2026Article
- Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.Metabolic brain disease · 2026Article
- Use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLOS): A single-center observational study, retrospective analysis and structured caregiver interview.Lipids in health and disease · 2025Observational
- Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.Journal of proteome research · 2025Article
- Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.Orphanet journal of rare diseases · 2025Article
- An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma.The Journal of clinical investigation · 2025Article
- First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.Oxford medical case reports · 2024Article
- Lipid Rafts: The Maestros of Normal Brain Development.Biomolecules · 2024Review
- Bottlenecks in the Investigation of Retinal Sterol Homeostasis.Biomolecules · 2024Review
- Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.Molecular genetics and metabolism reports · 2024Article
- Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.Clinical case reports · 2023Article
- Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.Frontiers in molecular biosciences · 2023Review
- Sterol regulation of developmental and oncogenic Hedgehog signaling.Biochemical pharmacology · 2022Review
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis.Cell reports · 2021Article
- Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.Biomolecules · 2021Article
- Cholesterol Contributes to Male Sex Differentiation Through Its Developmental Role in Androgen Synthesis and Hedgehog Signaling.Endocrinology · 2021Review
- Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.Balkan journal of medical genetics : BJMG · 2021Article
- Auditory phenotype of Smith-Lemli-Opitz syndrome.American journal of medical genetics. Part A · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.