ArticleFrontiers in cell and developmental biology2020
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.
Article in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 61 citations in OpenAlex.
- Biomarker changes in cerebral adrenoleukodystrophy after gene therapy or allogeneic hematopoietic cell transplant.Molecular therapy. Advances · 2026Article
- Article
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.Journal of neurology, neurosurgery, and psychiatry · 2026Observational
- In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.Nature biomedical engineering · 2026Article
- CSF and plasma neuro-biomarker dynamics after gene therapy for cerebral adrenoleukodystrophy.Molecular therapy. Advances · 2026Article
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids.iScience · 2026Article
- Lipid signature in X-ALD: a comparison between phenotypes.Frontiers in molecular biosciences · 2026Article
- Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.BMC neurology · 2025Review
- Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.Nutrients · 2025Review
- Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry.International journal of neonatal screening · 2025Article
- Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.The Indian journal of medical research · 2025Article
- Neurodegeneration in Autism: A Study of Clusterin, Very Long-Chain Fatty Acids, and Carnitine.Journal of molecular neuroscience : MN · 2025Article
- Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.Neurology. Genetics · 2024Review
- Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.Communications medicine · 2024Article
- Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry.Journal of lipid research · 2024Article
- Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.Molecular genetics & genomic medicine · 2023Article
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10 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Peroxisomes are subcellular organelles that are involved in various important physiological processes such as the oxidation of fatty acids and the biosynthesis of bile acids and plasmalogens. The gold standard in the diagnostic work-up for patients with peroxisomal disorders is the analysis of very long-chain fatty acid (VLCFA) levels in plasma. Alternatively, C26:0-lysophosphatidylcholine (C26:0-LPC) can be measured in dried blood spots (DBS) using liquid chromatography tandem mass spectrometry (LC-MS/MS); a fast and easy method but not yet widely used. Currently, little is known about the correlation of C26:0-LPC in DBS and C26:0-LPC in plasma, and how C26:0-LPC analysis compares to VLCFA analysis in diagnostic performance. We investigated the correlation between C26:0-LPC levels measured in DBS and plasma prepared from the same blood sample. For this analysis we included 43 controls and 38 adrenoleukodystrophy (ALD) (21 males and 17 females) and 33 Zellweger spectrum disorder (ZSD) patients. In combined control and patient samples there was a strong positive correlation between DBS C26:0-LPC and plasma C26:0-LPC, with a Spearman's rank correlation coefficient of
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