ArticleScientific reports2019
NMR-based newborn urine screening for optimized detection of inherited errors of metabolism.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 36 citations in OpenAlex.
- Dual-channel non-enzymatic sensor for comprehensive purine profiling: synergizing anodically pretreated boron-doped nanodiamond and PdMikrochimica acta · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Quantitative 1H-NMR spectroscopy identifies metabolites and lipoprotein subclasses associated with intermediate phenotypes of chronic diseases in the Japanese Nagahama Study.Scientific reports · 2025Article
- NMR Based Methods for Metabolites Analysis.Analytical chemistry · 2025Review
- LC-MS-Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor-Dependent Metabolic Disorders in Neonates.Journal of separation science · 2024Article
- Metabolic maturation in the infant urine during the first 3 months of life.Scientific reports · 2024Article
- The Urinary Metabolome of Newborns with Perinatal Complications.Metabolites · 2024Article
- Gut microbiome and metabolome to discover pathogenic bacteria and probiotics in ankylosing spondylitis.Frontiers in immunology · 2024Article
- Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex VivoMolecules (Basel, Switzerland) · 2023Article
- Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.International journal of neonatal screening · 2023Review
- Practical Aspects of NMR-Based Metabolomics.Handbook of experimental pharmacology · 2023Article
- Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis.International journal of neonatal screening · 2022Article
- NMR and Metabolomics-A Roadmap for the Future.Metabolites · 2022Review
- Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomics.JIMD reports · 2022Article
- Article
- Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism.Emerging topics in life sciences · 2021Review
- Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry.International journal of neonatal screening · 2021Article
- Study of the Metabolomics of Equine Preovulatory Follicular Fluid: A Way to Improve Current In Vitro Maturation Media.Animals : an open access journal from MDPI · 2020Article
- The Urinary Metabolome of Healthy Newborns.Metabolites · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and powerful tool for IEM detection in newborns, children, and adults with late onset. In here, we screened urine samples from a large set of neonates (470 individuals) from a homogeneous population (Basque Country), for the identification of congenital metabolic diseases using NMR spectroscopy. Absolute quantification allowed to derive a probability function for up to 66 metabolites that adequately describes their normal concentration ranges in newborns from the Basque Country. The absence of another 84 metabolites, considered abnormal, was routinely verified in the healthy newborn population and confirmed for all but 2 samples, of which one showed toxic concentrations of metabolites associated to ketosis and the other one a high trimethylamine concentration that strongly suggested an episode of trimethylaminuria. Thus, a non-invasive and readily accessible urine sample contains enough information to assess the potential existence of a substantial number (>70) of IEMs in newborns, using a single, automated and standardized
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.