| Literature DB >> 16116126 |
L Salviati1, S Sacconi, L Murer, G Zacchello, L Franceschini, A M Laverda, G Basso, C Quinzii, C Angelini, M Hirano, A B Naini, P Navas, S DiMauro, G Montini.
Abstract
Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.Entities:
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Year: 2005 PMID： 16116126 DOI： 10.1212/01.wnl.0000172859.55579.a7
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910