ArticleJournal of inherited metabolic disease2015
An overview of inborn errors of complex lipid biosynthesis and remodelling.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 61 citations in OpenAlex.
- Metabolic features of treatment-refractory major depressive disorder with suicidal ideation.Translational psychiatry · 2023Article
- Therapeutic Role of ELOVL in Neurological Diseases.ACS omega · 2023Review
- Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.International journal of molecular sciences · 2023Review
- Lipid analysis by ion mobility spectrometry combined with mass spectrometry: A brief update with a perspective on applications in the clinical laboratory.Journal of mass spectrometry and advances in the clinical lab · 2022Article
- The role of ethanolamine phosphate phospholyase in regulation of astrocyte lipid homeostasis.The Journal of biological chemistry · 2021Article
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.Scientific data · 2021Article
- The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.Children (Basel, Switzerland) · 2021Article
- The Urinary Metabolome of Healthy Newborns.Metabolites · 2020Article
- Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.Case reports in medicine · 2020Article
- Review
- An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.Dialogues in clinical neuroscience · 2018Review
- Inborn errors of metabolism in the 21Annals of translational medicine · 2018Review
- Synaptic metabolism and brain circuitries in inborn errors of metabolism.Journal of inherited metabolic disease · 2018Article
- Lipids and synaptic functions.Journal of inherited metabolic disease · 2018Review
- Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.Journal of inherited metabolic disease · 2018Review
- Plasma lipidomics as a diagnostic tool for peroxisomal disorders.Journal of inherited metabolic disease · 2018Article
- The role of the clinician in the multi-omics era: are you ready?Journal of inherited metabolic disease · 2018Article
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.Orphanet journal of rare diseases · 2015Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a review published in 2012, we delineated 14 inborn errors of metabolism (IEM) related to defects in biosynthesis of complex lipids, particularly phospholipids and sphingolipids (Lamari et al 2013). Given the numerous roles played by these molecules in membrane integrity, cell structure and function, this group of diseases is rapidly expanding as predicted. Almost 40 new diseases related to genetic defects in enzymes involved in the biosynthesis and remodelling of phospholipids, sphingolipids and complex fatty acids are now reported. While the clinical phenotype associated with these defects is currently difficult to outline, with only a few patients identified to date, it appears that all organs and systems may be affected - central and peripheral nervous system, eye, muscle, skin, bone, liver, immune system, etc. This chapter presents an introductive overview of this new group of IEM. More broadly, this special issue provides an update on other IEM involving complex lipids, namely dolichol and isoprenoids, glycolipids and congenital disorders of glycosylation, very long chain fatty acids and plasmalogens. Likewise, more than 100 IEM may actually lead to primary or secondary defects of complex lipids synthesis and remodelling. Because of the implication of several cellular compartments, this new group of disorders affecting the synthesis and remodelling of complex molecules challenges our current classification of IEM still largely based on cellular organelles--i.e. mitochondrial, lysosomal, peroxisomal disorders. While most of these new disorders have been identified by next generation sequencing, we wish to emphasize the promising role of lipidomics in deciphering their pathophysiology and identifying therapeutic targets.
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.