ReviewAnnals of pediatric endocrinology & metabolism2015
Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry.
Review in Annals of pediatric endocrinology & metabolism, 2015. 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 25 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
25 citing papers in PubMed.
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- A Review of Newborn Screening for VLCADD: The Wisconsin Experience.International journal of neonatal screening · 2025Article
- 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
- Current Role and Potential of Triple Quadrupole Mass Spectrometry in Biomedical Research and Clinical Applications.Molecules (Basel, Switzerland) · 2024Review
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.Orphanet journal of rare diseases · 2024Article
- Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry.Indian journal of clinical biochemistry : IJCB · 2024Article
- Metabolite Biomarkers for Early Ischemic-Hypoxic Encephalopathy: An Experimental Study Using the NeoBase 2 MSMS Kit in a Rat Model.International journal of molecular sciences · 2024Article
- Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living.Human genomics · 2023Review
- 3-Methylglutarylcarnitine: A biomarker of mitochondrial dysfunction.Clinica chimica acta; international journal of clinical chemistry · 2023Review
- Mass spectrometry-based proteomics as an emerging tool in clinical laboratories.Clinical proteomics · 2023Review
- Impact of Maternal Lifestyle and Dietary Habits during Pregnancy on Newborn Metabolic Profile.Nutrients · 2023Article
- Metabolic differences among newborns born to mothers with a history of leukemia or lymphoma.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2022Article
- Metabolomics application for the design of an optimal diet.Journal of preventive medicine and hygiene · 2022Review
- Applications of quantitative metabolomics to revolutionize early diagnosis of inborn errors of metabolism in India.Analytical science advances · 2021Review
- Contribution of Metabolomics to Multiple Sclerosis Diagnosis, Prognosis and Treatment.International journal of molecular sciences · 2021Review
- Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.International journal of neonatal screening · 2021Article
- A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches.Metabolites · 2020Article
- A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.Metabolites · 2020Article
- Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis.Current molecular medicine · 2020Review
- Acylcarnitine profiling by low-resolution LC-MS.PloS one · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.
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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.