Associated Papers
Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2025
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Lin Y et al.
Scientific Reports, 2025
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.
Lin W et al.
Molecular Genetics and Metabolism Reports, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.
Zhou M et al.
Frontiers in Pediatrics, 2022
35664874 (PubMed )
Supplement: Table_1.XLSX › Diagnostic_data
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Rips J et al.
Journal of Inherited Metabolic Disease, 2016
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Yang L et al.
Clinical Genetics, 2015
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
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