ReviewMetabolites2019
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.
Review in Metabolites, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 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
45 citing papers in PubMed.
- Population-Associated Molecular Variation in Histologically Normal Breast Tissue Is Associated with Distinct Baseline Transcriptional States.International journal of molecular sciences · 2026Article
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- Review
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Lipidomic Signatures in Pediatric Metabolic Disorders.Metabolites · 2025Review
- Expanded Newborn Screening in Italy: The First Report of Lombardy Region.International journal of neonatal screening · 2025Article
- Metabolomics in juvenile idiopathic arthritis: A distinct profile in patients under methotrexate.Clinics (Sao Paulo, Brazil) · 2025Article
- [Detection of inborn errors of metabolism: guidelines in Mexico and other countries].Revista medica del Instituto Mexicano del Seguro Social · 2024Review
- A global perspective on the status of clinical metabolomics in laboratory medicine - a survey by the IFCC metabolomics working group.Clinical chemistry and laboratory medicine · 2024Article
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.Orphanet journal of rare diseases · 2024Article
- Revolutionizing Blood Collection: Innovations, Applications, and the Potential of Microsampling Technologies for Monitoring Metabolites and Lipids.Metabolites · 2024Review
- Metabolomics and lipidomics strategies in modern drug discovery and development.Drug discovery today · 2023Review
- Integrative metabolome and lipidome analyses of plasma in neovascular macular degeneration.Heliyon · 2023Article
- Identification of Salivary Metabolic Signatures Associated with Primary Sjögren's Disease.Molecules (Basel, Switzerland) · 2023Article
- Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives.Metabolites · 2023Review
- Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia.Journal of clinical medicine · 2023Article
- Proteomics in Inherited Metabolic Disorders.International journal of molecular sciences · 2022Review
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- Birth Weight and Early Postnatal Outcomes: Association with the Cord Blood Lipidome.Nutrients · 2022Article
- Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.BMC health services research · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
Abstract
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics.
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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.