ArticleFrontiers in genetics2018
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Journal of cellular and molecular medicine · 2026Pooled it
- A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.Scientific reports · 2025Article
- Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.Communications medicine · 2025Article
- Neurodevelopmental assessment of early treated children with phenylketonuria: insights from Griffith III scales.European journal of pediatrics · 2025Observational
- Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.Frontiers in pediatrics · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.Molecular genetics and metabolism reports · 2024Article
- Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.Frontiers in genetics · 2024Article
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.Molecular genetics & genomic medicine · 2023Article
- Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.International journal of neonatal screening · 2023Review
- Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.Frontiers in genetics · 2022Article
- Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet.Frontiers in pediatrics · 2022Article
- NeoSeq: a new method of genomic sequencing for newborn screening.Orphanet journal of rare diseases · 2021Article
- Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Epimutation of MMACHC compound to a genetic mutation in cblC cases.Molecular genetics & genomic medicine · 2021Article
- Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.Bioscience reports · 2021Article
- A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.Amino acids · 2021Article
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2021Article
- Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay forFrontiers in genetics · 2021Article
- Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (
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