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Original article
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

Authors

  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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Citation

Yamada K, Aiba K, Kitaura Y, et al
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

Publication history

  • Received May 10, 2015
  • Revised July 11, 2015
  • Accepted July 13, 2015
  • First published August 6, 2015.
Online issue publication 
September 22, 2015

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