ReviewJournal of mass spectrometry and advances in the clinical lab2024
How mass spectrometry revolutionized newborn screening.
Review in Journal of mass spectrometry and advances in the clinical lab, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 25 citations in OpenAlex.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- FIA-MS/MS-Based Targeted Metabolomics of Amino Acids and Acylcarnitines Uncovers Network-Level Metabolic Reprogramming in Chronic Kidney Disease.Biomedicines · 2026Article
- Improving the Throughput and Specificity for Small-Molecule Analysis During First-Tier Mass Spectrometry-Based Newborn Screening.Metabolites · 2026Article
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- Boosting phenazine-1-carboxylic acid (PCA) yield in Pseudomonas aeruginosa and assessing antifungal performance of PCA-loaded mesoporous carriers.Archives of microbiology · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease.Metabolites · 2026Review
- Metabolic maturity patterns in neonates: dissecting the interactive effects of gestational age and birth weight on metabolic profiles.Frontiers in pediatrics · 2026Article
- A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.Journal of analytical methods in chemistry · 2026Article
- Exploratory Urinary Proteomic Profiling in Pregnancies with Fetal Aneuploidies: Molecular Insights into Maternal-Fetal Metabolic Communication.Current issues in molecular biology · 2025Article
- Metabolomics in the Context of Exercise in Subjects with Multimorbidity: A Pilot Study.Biomolecules · 2025Article
- Article
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.Orphanet journal of rare diseases · 2025Observational
- Biomarkers, Proteoforms, and Mass Spectrometry-Based Assays for Diabetes Clinical Research.The Journal of clinical endocrinology and metabolism · 2025Review
- Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation.International journal of neonatal screening · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants.International journal of neonatal screening · 2025Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This article offers a personal account of a remarkable journey spanning over 30 years of applied mass spectrometry in a clinical setting. It begins with the author's inspiration from a clinician's story of rescuing a child from near death with a revolutionary therapeutic intervention. Motivated by this experience, the author delved into the field of chemistry and mass spectrometry to solve an analytical challenge. The breakthrough came with the development of the first front-line diagnostic test performed by MS/MS, which focused on analyzing acylcarnitines to detect and diagnose inherited disorders related to fatty acid and branched-chain amino acid catabolism. Building upon this success, the author expanded the application of the method to dried blood spots, incorporating additional analytical components such as essential amino acids. The result was a groundbreaking multiplex assay capable of screening newborns for more than 30 inherited metabolic conditions with just one test. This novel approach laid the foundation for a targeted metabolomics platform that facilitated the identification of new animal models of metabolic disease through screening the offspring of genetically modified adults. The development and utilization of MS/MS with UPLC has led to the creation of new assays for biomarkers of metabolic disease, benefiting both the diagnosis and therapeutic monitoring of these conditions. The article provides compelling examples from the author's laboratory, highlighting the value and vast applications of these methods in the field of metabolic disease research.
Indexed as
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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.