ArticleBMC pediatrics2018
Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
Article in BMC pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.Journal of inherited metabolic disease · 2025Pooled it
- Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy.Frontiers in pediatrics · 2021Pooled it
- 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
- Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt.European journal of pediatrics · 2026Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Determining the Reference Range of Amino Acids in Healthy Neonatal Blood Samples in Northeast Iran Using LC-MS/MS.Reports of biochemistry & molecular biology · 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
- Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.Global pediatric health · 2024Article
- Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.Frontiers in genetics · 2023Article
- Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry.Oman medical journal · 2022Article
- Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Compromised therapeutic value of pediatric liver transplantation in ethylmalonic encephalopathy: A case report.World journal of gastroenterology · 2020Article
- A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish.Biomolecules · 2020Review
- Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China.Journal of clinical laboratory analysis · 2020Article
- Early access to biological neonatal screening: coordination among child care action programs.Revista latino-americana de enfermagem · 2020Article
- Clinical Spectrum of Inherited Disorders of Metabolism.Indian journal of pediatrics · 2019Article
- A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders.Medicine · 2019Article
- Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities.International journal of neonatal screening · 2019Article
- Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.BioMed research international · 2019Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). Methods of screening for IEM by tandem mass spectrometry (MS/MS) have been developed, and their advantages include rapid testing, high sensitivity, high specificity, high throughput, and low sample volume (a single dried blood spot).
methodsDried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis.
resultsThe percentages of males and females among the 100,077 infants were 54.1% and 45.9%, respectively. Cut-off values were established by utilizing the percentile method. The screening results showed that 98,764 newborns were healthy, and 56 out of the 1313 newborns with suspected IEM were ultimately diagnosed with IEM. Among these 56 newborns, 19 (1:5267) had amino acid metabolism disorders, 26 (1:3849) had organic acid metabolism disorders, and 11 (1:9098) had fatty acid oxidation disorders. In addition, 54 patients with IEM were found to carry mutations, and the other 2 patients had argininemia.
conclusionsFifty-six cases of metabolic disorders in Jining were confirmed via newborn screening (NBS) by MS/MS. Early diagnosis and treatment are crucial for the survival and well-being of affected children. A nationwide NBS program using MS/MS is recommended, especially in poor areas of China.
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