Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Journal of Medical Genetics - Tập 52 Số 10 - Trang 691-698 - 2015
Kenichiro Yamada1, Kaori Aiba2, Yasuyuki Kitaura3, Yûsuke Kondo3, Noriko Nomura1, Y. Nakamura2, Daisuke Fukushi1, Kei Murayama4, Yoshiharu Shimomura3, James Pitt5, Seiji Yamaguchi6,7, Kenji Yokochi8, Nobuaki Wakamatsu1
1Institute for Developmental Research, Aichi Human Service Center
2Toyohashi Municipal Hospital
3Graduate School of Bioagricultural Sciences, Nagoya University
4Chiba Children’S Hospital
5Murdoch Children’s Research Institute
6Faculty of Medicine
7Shimane University
8Seirei-Mikatahara General Hospital

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