Biochemical Diagnosis of Coenzyme Q(10) Deficiency

Coenzyme Q(10) (CoQ(10)) deficiency appears to have a particularly heterogeneous clinical presentation. However, there appear to be 5 recognisable clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. However, although...

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Hlavní autoři: Yubero, Delia, Montero, Raquel, Artuch, Rafael, Land, John M., Heales, Simon J.R., Hargreaves, Iain P.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2014
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Published online: May, 2014
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4112526/
https://ncbi.nlm.nih.gov/pubmed/25126047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000362390
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