ArticleExpert opinion on orphan drugs2015
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.
Article in Expert opinion on orphan drugs, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Guidelines on diagnosis and management of gastroesophageal reflux disease in infants, children and adolescents: a joint consensus from Italian pediatric societies (SIP and SIGENP) -Part II: management.Italian journal of pediatrics · 2026Guideline
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- Macrophage signaling and function are regulated by distinct sterol biochemistries.Journal of lipid research · 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
- Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.Biomolecules · 2025Article
- Review
- Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.Biomedicines · 2025Article
- Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.American journal of medical genetics. Part A · 2025Observational
- Hygienic behaviors and use of dental care in patients with genetic syndromes.Scientific reports · 2024Article
- Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.The Journal of clinical investigation · 2024Article
- Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.Clinical case reports · 2023Article
- Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk.Disease models & mechanisms · 2022Article
- Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.Orphanet journal of rare diseases · 2022Review
- Medication effects on developmental sterol biosynthesis.Molecular psychiatry · 2022Review
- Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.Balkan journal of medical genetics : BJMG · 2021Article
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Low Incidence of Postdural Puncture Headache Further Reduced With Atraumatic Spinal Needle: A Retrospective Cohort Study.Pediatric neurology · 2021Observational
- CHEDDA syndrome: a case report and review of the literature for this newly described entity.Radiology case reports · 2020Article
- iPSC modeling of rare pediatric disorders.Journal of neuroscience methods · 2020Review
- Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.Journal of inherited metabolic disease · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
introductionSmith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. AREAS COVERED: In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. EXPERT OPINION: Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials.
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.