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Clinical Presentations of Coenzyme Q(10) Deficiency Syndrome

Coenzyme Q(10) (CoQ(10)) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenot...

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Bibliografiska uppgifter
Huvudupphovsmän: Quinzii, Catarina M., Emmanuele, Valentina, Hirano, Michio
Materialtyp: Artigo
Språk:Inglês
Publicerad: S. Karger AG 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4112523/
https://ncbi.nlm.nih.gov/pubmed/25126046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000360490
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