Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Fitzsimons, Patricia E; Alston, Charlotte L; Bonnen, Penelope E; Hughes, Joanne; Crushell, Ellen; Geraghty, Michael T; Tetreault, Martine; O'Reilly, Peter; Twomey, Eilish; Sheikh, Yusra; Walsh, Richard; Waterham, Hans R; Ferdinandusse, Sacha; Wanders, Ronald J A; Taylor, Robert W; Pitt, James J; Mayne, Philip D.
Am J Med Genet A; 176(5): 1115-1127, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29575569

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