Hye In Woo Hyung-Doo Park Yong-Wha Lee Dong Hwan Lee Chang-Seok Ki Soo-Youn Lee Jong-Won Kim
10.3343/kjlm.2011.31.1.54
Korean J Lab Med
2011 Jan;31(1):54-60.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21239873/
Asian People / genetics
Asian People / genetics Case Reports Acyl-CoA Dehydrogenase / chemistry Acyl-CoA Dehydrogenase / deficiency Acyl-CoA Dehydrogenase / genetics Base Sequence Biomarkers / blood Carnitine / analogs & derivatives Carnitine / blood DNA Mutational Analysis Exons Female Gene Deletion Heterozygote Humans Infant, Newborn Lipid Metabolism, Inborn Errors / diagnosis Lipid Metabolism, Inborn Errors / genetics Male Mutation Neonatal Screening Republic of Korea Tandem Mass Spectrometry Biomarkers acylcarnitine Acyl-CoA Dehydrogenase Carnitine Medium chain acyl CoA dehydrogenase deficiency
PMC3111034
21239873
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency
2011