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

Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile‐onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalitie...

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Publicat a:Am J Med Genet A
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5947294/
https://ncbi.nlm.nih.gov/pubmed/29575569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38658
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