ArticleFrontiers in genetics2022
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 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
- A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.International journal of neonatal screening · 2026Review
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).Molecular genetics and metabolism reports · 2026Article
- Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.International journal of neonatal screening · 2025Review
- Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.Communications medicine · 2025Article
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- Parents' perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates.Human genomics · 2025Article
- A case report of 'Two-Hit' digenic mutations in PAH: role of PADN in management.Frontiers in pharmacology · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Newborn screening for fatty acid oxidation disorders in a southern Chinese population.Heliyon · 2024Article
- The significance of machine learning in neonatal screening for inherited metabolic diseases.Frontiers in pediatrics · 2024Article
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.PeerJ · 2024Article
- Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.Sage open pediatricsReview
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tandem mass spectrometry (MS/MS) has been developed as one of the most important diagnostic platforms for the early detection and screening of inherited metabolic disorders (IMDs). To determine the disease spectrum and genetic characteristics of IMDs in Suqian city of Jiangsu province in the northern Chinese population, dried blood spots from 2,04,604 newborns, were assessed for IMDs by MS/MS from January 2016 to November 2020. Suspected positive patients were diagnosed through next-generation sequencing (NGS) and validated by Sanger sequencing. One hundred patients with IMDs were diagnosed, resulting in an overall incidence of 1/2,046, of which 56 (1/3,653), 22 (1/9,300), and 22 (1/9,300) were confirmed amino acids disorders (AAs), organic acids disorders (OAs), fatty acid oxidation disorders (FAODs) positive cases, respectively. The highest incidence of IMDs is phenylalanine hydroxylase deficiency (PAHD) (45 cases), with a total incidence of 1:4,546. Hot spot mutations in phenylalanine hydroxylase (PAH)-related genes are
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