ReviewInternational journal of molecular sciences2016
Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era.
Review in International journal of molecular sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed.
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Article
- Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.Metabolites · 2025Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Estimating metabolite networks subject to dietary preferences and lifestyle.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.International journal of neonatal screening · 2025Article
- Retrospective analysis of reference intervals for dried blood spot based ms/ms newborn screening programs in Chinese preterm neonates: a nationwide study.BMC pediatrics · 2024Article
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.Frontiers in genetics · 2024Article
- Role of untargeted omics biomarkers of exposure and effect for tobacco research.Addiction neuroscience · 2023Article
- An epidemiological introduction to human metabolomic investigations.Trends in endocrinology and metabolism: TEM · 2023Review
- Knowledge and awareness level of healthcare professional candidate students on inherited metabolic diseases: a cross-sectional study.BMC medical education · 2023Article
- Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia.Journal of clinical medicine · 2023Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- 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
- Review
- Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.Journal of inherited metabolic disease · 2022Article
- Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.Scientific reports · 2022Article
- Untargeted Metabolomics Reveals Metabolic Stress Alleviation by Prepartum Exercise in Transition Dairy Cows.Metabolites · 2022Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, early diagnosis is usually mandatory for successful treatment. Given the considerable clinical overlap between some inborn errors, biochemical and molecular tests are crucial in making a diagnosis. Conventional biological diagnosis procedures are based on a time-consuming series of sequential and segmented biochemical tests. The rise of "omic" technologies offers holistic views of the basic molecules that build a biological system at different levels. Metabolomics is the most recent "omic" technology based on biochemical characterization of metabolites and their changes related to genetic and environmental factors. This review addresses the principles underlying metabolomics technologies that allow them to comprehensively assess an individual biochemical profile and their reported applications for IEM investigations in the precision medicine era.
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