Associated Papers
Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.
Hu H et al.
International Journal of Neonatal Screening, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
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
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Tian Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
Dong L et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Zhang H et al.
Frontiers in Genetics, 2022
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
Gong Z et al.
Frontiers in Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Li Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
Tong F et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
Kaku N et al.
Journal of Clinical Pathology, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function.
Lim SC et al.
Scientific Reports, 2018
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G et al.
Molecular Genetics and Metabolism, 2016
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Hara K et al.
Molecular Genetics and Metabolism, 2016
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Jinjun C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
Purevsuren J et al.
Molecular Genetics and Metabolism, 2012
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J et al.
Molecular Genetics and Metabolism, 2009