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Primary and secondary CoQ(10) deficiencies in humans

CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pa...

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Autori principali: Quinzii, Catarina M., Hirano, Michio
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3258494/
https://ncbi.nlm.nih.gov/pubmed/21990098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/biof.155
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