Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report

RATIONALE: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group, which has been confirmed by novel mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH). So far, a few cases have been reported with long-term follow-up. Here...

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Detalles Bibliográficos
Autores principales: Wang, Juan, Wu, Jun-Cang, Yu, Xu-En, Han, Yong-Zhu, Yang, Ren-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283216/
https://www.ncbi.nlm.nih.gov/pubmed/30508893
http://dx.doi.org/10.1097/MD.0000000000013153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283216/
https://www.ncbi.nlm.nih.gov/pubmed/30508893
http://dx.doi.org/10.1097/MD.0000000000013153

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