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A novel ACAD8 mutation in asymptomatic patients with isobutyryl‐ CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

2014; Wiley; Volume: 87; Issue: 2 Linguagem: Inglês

10.1111/cge.12350

1399-0004

Jae Won Yun, Kyoung Il Jo, Hye In Woo, Soo‐Youn Lee, Chang‐Seok Ki, J.‐W. Kim, Junghan Song, D. H. Lee, Y.‐W. Lee, H.‐D. Park,

Peroxisome Proliferator-Activated Receptors

Clinical GeneticsVolume 87, Issue 2 p. 196-198 LETTER TO THE EDITOR A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum J.W. Yun, J.W. Yun Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorK.I. Jo, K.I. Jo Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of KoreaSearch for more papers by this authorH.I. Woo, H.I. Woo Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorS.-Y. Lee, S.-Y. Lee Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorC.-S. Ki, C.-S. Ki Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorJ.-W. Kim, J.-W. Kim Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorJ. Song, J. Song Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongam, Republic of KoreaSearch for more papers by this authorD.H. Lee, D.H. Lee Department of Pediatrics, Soonchunhyang University College of Medicine, Soonchunhyang University Hospital, Seoul, Republic of KoreaSearch for more papers by this authorY.-W. Lee, Corresponding Author Y.-W. Lee Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea Correspondence: Hyung-Doo Park, MD, PhD Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine 81 Irwon-ro, Gangnam-gu Seoul 135-710 Republic of Korea Tel.: +82 2 3410 0290 fax: +82 2 3410 2719 e-mail: nayadoo@hanmail.net and Yong-Wha Lee, MD, PhD Department of Laboratory Medicine and Genetics Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital 170 Jomaru-ro, Wonmi-gu Bucheon 420–767 Republic of Korea Tel: +82 32 621 5943 fax: +82 32 621 5944 e-mail: lywmd@schmc.ac.krSearch for more papers by this authorH.-D. Park, Corresponding Author H.-D. Park Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea Correspondence: Hyung-Doo Park, MD, PhD Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine 81 Irwon-ro, Gangnam-gu Seoul 135-710 Republic of Korea Tel.: +82 2 3410 0290 fax: +82 2 3410 2719 e-mail: nayadoo@hanmail.net and Yong-Wha Lee, MD, PhD Department of Laboratory Medicine and Genetics Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital 170 Jomaru-ro, Wonmi-gu Bucheon 420–767 Republic of Korea Tel: +82 32 621 5943 fax: +82 32 621 5944 e-mail: lywmd@schmc.ac.krSearch for more papers by this author J.W. Yun, J.W. Yun Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorK.I. Jo, K.I. Jo Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of KoreaSearch for more papers by this authorH.I. Woo, H.I. Woo Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorS.-Y. Lee, S.-Y. Lee Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorC.-S. Ki, C.-S. Ki Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorJ.-W. Kim, J.-W. Kim Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaSearch for more papers by this authorJ. Song, J. Song Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongam, Republic of KoreaSearch for more papers by this authorD.H. Lee, D.H. Lee Department of Pediatrics, Soonchunhyang University College of Medicine, Soonchunhyang University Hospital, Seoul, Republic of KoreaSearch for more papers by this authorY.-W. Lee, Corresponding Author Y.-W. Lee Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea Correspondence: Hyung-Doo Park, MD, PhD Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine 81 Irwon-ro, Gangnam-gu Seoul 135-710 Republic of Korea Tel.: +82 2 3410 0290 fax: +82 2 3410 2719 e-mail: nayadoo@hanmail.net and Yong-Wha Lee, MD, PhD Department of Laboratory Medicine and Genetics Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital 170 Jomaru-ro, Wonmi-gu Bucheon 420–767 Republic of Korea Tel: +82 32 621 5943 fax: +82 32 621 5944 e-mail: lywmd@schmc.ac.krSearch for more papers by this authorH.-D. Park, Corresponding Author H.-D. Park Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea Correspondence: Hyung-Doo Park, MD, PhD Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine 81 Irwon-ro, Gangnam-gu Seoul 135-710 Republic of Korea Tel.: +82 2 3410 0290 fax: +82 2 3410 2719 e-mail: nayadoo@hanmail.net and Yong-Wha Lee, MD, PhD Department of Laboratory Medicine and Genetics Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital 170 Jomaru-ro, Wonmi-gu Bucheon 420–767 Republic of Korea Tel: +82 32 621 5943 fax: +82 32 621 5944 e-mail: lywmd@schmc.ac.krSearch for more papers by this author First published: 21 February 2014 https://doi.org/10.1111/cge.12350Citations: 10Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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