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Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identif...

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Principais autores: Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2024-10-01
Serier:International Journal of Neonatal Screening
Fag:
short-chain acyl CoA dehydrogenase deficiency
newborn screening
tandem mass spectrometry
genetic mutation
Online adgang:https://www.mdpi.com/2409-515X/10/4/68
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