An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach

Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-Co...

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Detalles Bibliográficos
Autores principales: Aintablian, H.K., Narayanan, V., Belnap, N., Ramsey, K., Grebe, T.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219625/
https://www.ncbi.nlm.nih.gov/pubmed/28070495
http://dx.doi.org/10.1016/j.ymgmr.2016.12.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219625/
https://www.ncbi.nlm.nih.gov/pubmed/28070495
http://dx.doi.org/10.1016/j.ymgmr.2016.12.005

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