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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Original Articles
Acesso em linha: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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