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.

期刊名称American Journal of Medical Genetics Part A
作者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.
印刷ISSN1552-4825
文件大小1144.35KB
发表时间2018-03-25
DOI10.1002/ajmg.a.38658

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