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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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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
S. Karger AG
2014
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| Schlagworte: | |
| Online Zugang: | 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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