ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had th...

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Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2016
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110442/
https://ncbi.nlm.nih.gov/pubmed/26920905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_538
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