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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Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: MDPI AG 2024-10-01
Sraith:International Journal of Neonatal Screening
Ábhair:
Rochtain ar líne:https://www.mdpi.com/2409-515X/10/4/68