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Heterogeneity of coenzyme Q(10) deficiency: Patient Study and Literature Review

CoQ(10) deficiency has been associated with five major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis while secondary forms are due to other ca...

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Detalhes bibliográficos
Main Authors: Emmanuele, V, López, LC, Berardo, A, Naini, A, Tadesse, S, Wen, B, D’Agostino, E, Salomon, M, DiMauro, S, Quinzii, CM, Hirano, M
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3639472/
https://ncbi.nlm.nih.gov/pubmed/22490322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2012.206
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