Short-chain Acyl-coa Dehydrogenase Deficiency
What's New
Last Posted: Oct 13, 2022
- Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Chen Min et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022 51(3) 290-297 - Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.
Li Xia et al. Frontiers in genetics 2022 12763222 - Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021 - Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.
Messina MariaAnna et al. International journal of neonatal screening 2020 Jul 6(3) - Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Adhikari Aashish N et al. International journal of neonatal screening 2020 Jun 6(2) - Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Wang Shuting et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 May - Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang Ting et al. Frontiers in genetics 2019 101052 - Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Mar - A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3 - Short-chain acyl-CoA dehydrogenase deficiency
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