ReviewJournal of inherited metabolic disease2012
Sjögren-Larsson syndrome in clinical practice.
Review in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01971957 (Sjogren-Larsson Syndrome), which is not on this map. Cited by 17 papers.
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.
Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
Who cites it
17 citing papers in PubMed.
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.Molecular biology reports · 2026Article
- General Anesthesia for a Child With Sjögren-Larsson Syndrome.Anesthesia progress · 2026Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.Paediatric anaesthesia · 2020Article
- Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.American journal of medical genetics. Part A · 2020Article
- Sjogren-Larsson Syndrome: Mechanisms and Management.The application of clinical genetics · 2020Review
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.BMC medical genetics · 2018Article
- Atypical Presentation of Sjögren-Larsson Syndrome.Case reports in pediatrics · 2017Article
- Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.Journal of child neurology · 2017Article
- Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.BMJ case reports · 2016Article
- Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Expert opinion on orphan drugs · 2016Article
- Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.Ophthalmology · 2015Observational
- Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.Indian journal of pediatrics · 2015Article
- Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2015Review
- 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.Molecular genetics and metabolismArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.
Indexed as
Identifiers
22833178What 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.