ReviewTouchREVIEWS in endocrinology2021
Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review.
Review in TouchREVIEWS in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
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
12 citing papers in PubMed.
- The Impact of Nutritional Management on Fat-Soluble Nutrient Status in Patients with Fatty Acid Oxidation Disorders: A Cross-Sectional Study.Metabolites · 2026Article
- Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Human mutation · 2026Article
- Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders.JCI insight · 2025Article
- Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.Molecular genetics and metabolism reports · 2025Article
- An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies.Frontiers in cardiovascular medicine · 2025Review
- Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.Italian journal of pediatrics · 2024Article
- Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report.Cureus · 2024Article
- Critical Role of Mitochondrial Fatty Acid Metabolism in Normal Cell Function and Pathological Conditions.International journal of molecular sciences · 2024Review
- Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.International journal of neonatal screening · 2024Article
- Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.International journal of neonatal screening · 2023Article
- Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.Orphanet journal of rare diseases · 2022Review
- Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.
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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.