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5. 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. Yamada K; Aiba K; Kitaura Y; Kondo Y; Nomura N; Nakamura Y; Fukushi D; Murayama K; Shimomura Y; Pitt J; Yamaguchi S; Yokochi K; Wakamatsu N J Med Genet; 2015 Oct; 52(10):691-8. PubMed ID: 26251176 [TBL] [Abstract][Full Text] [Related]
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