Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

Ethylmalonic acid (EMA) is a major and potentially cytotoxic metabolite associated with short‐chain acyl‐CoA dehydrogenase (SCAD) deficiency, a condition whose status as a disease is uncertain. Unexplained high EMA is observed in some individuals with complex neurological symptoms, who carry the SCA...

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Detalles Bibliográficos
Autores principales: Fogh, Sarah, Dipace, Graziana, Bie, Anne, Veiga‐da‐Cunha, Maria, Hansen, Jakob, Kjeldsen, Margrethe, Mosegaard, Signe, Ribes, Antonia, Gregersen, Niels, Aagaard, Lars, Van Schaftingen, Emile, Olsen, Rikke K. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518634/
https://www.ncbi.nlm.nih.gov/pubmed/33973257
http://dx.doi.org/10.1002/jimd.12394

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518634/
https://www.ncbi.nlm.nih.gov/pubmed/33973257
http://dx.doi.org/10.1002/jimd.12394

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