article_metadata: Hye In Woo Hyung-Doo Park Yong-Wha Lee Dong Hwan Lee Chang-Seok Ki Soo-Youn Lee Jong-Won Kim
article_metadata: 10.3343/kjlm.2011.31.1.54
article_metadata: Korean J Lab Med
article_metadata: 2011 Jan;31(1):54-60.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21239873/
article_metadata: Asian People / genetics
article_metadata: 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
article_metadata: PMC3111034
article_metadata: 21239873
article_metadata: Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency
article_metadata: 2011