ArticleHuman mutation2019
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China.Orphanet journal of rare diseases · 2026Article
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.Arquivos de neuro-psiquiatria · 2023Article
- Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.Metabolites · 2023Article
- Ether lipids and a peroxisomal riddle in sperm.Frontiers in cell and developmental biology · 2023Review
- Tricky Isomers-The Evolution of Analytical Strategies to Characterize Plasmalogens and Plasmanyl Ether Lipids.Frontiers in cell and developmental biology · 2022Review
- Regulation of plasmalogen metabolism and traffic in mammals: The fog begins to lift.Frontiers in cell and developmental biology · 2022Review
- A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.Journal of child neurology · 2021Article
- REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.JCI insight · 2021Article
- Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.Paediatric anaesthesia · 2020Article
- Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.Human genomics · 2020Article
- Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.JIMD reports · 2020Article
- Sjogren-Larsson Syndrome: Mechanisms and Management.The application of clinical genetics · 2020Review
- Taraxacum officinale extract ameliorates dextran sodium sulphate-induced colitis by regulating fatty acid degradation and microbial dysbiosis.Journal of cellular and molecular medicine · 2019Article
- Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.Journal of human genetics · 2019Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- Deleterious mutations inNPJ genomic medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
The Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Interpreting patient-to-patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient-centered literature data was merged into a concise genotype-based, open-access database (www.LOVD.nl/ALDH3A2). One hundred and seventy eight individuals with 90 unique SLS-causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS. However, a stringent genotype-phenotype correlation analysis was hampered by the considerable variability in reporting phenotypic features. Consequently, we compiled a set of recommendations of how to generate comprehensive SLS patient descriptions in the future. This will be of benefit on multiple levels, for example, in clinical diagnosis, basic research, and the development of novel treatment options for SLS.
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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.