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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
  1. Kenichiro Yamada1,
  2. Kaori Aiba2,
  3. Yasuyuki Kitaura3,
  4. Yusuke Kondo3,
  5. Noriko Nomura1,
  6. Yuji Nakamura2,
  7. Daisuke Fukushi1,
  8. Kei Murayama4,
  9. Yoshiharu Shimomura3,
  10. James Pitt5,
  11. Seiji Yamaguchi6,
  12. Kenji Yokochi7,
  13. Nobuaki Wakamatsu1
  1. 1Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan
  2. 2Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan
  3. 3Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan
  4. 4Department of Metabolism, Chiba Children's Hospital, Chiba, Japan
  5. 5Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  6. 6Department of Pediatrics, Faculty of Medicine, Shimane University, Izumo, Shimane, Japan
  7. 7Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan
  1. Correspondence to Dr Nobuaki Wakamatsu, Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya-cho, Kasugai, Aichi 480-0392, Japan; nwaka{at}inst-hsc.jp

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