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EnglishCoenzyme 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.
| Titolo: | Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition |
| Autori: | |
| Data di pubblicazione: | 2005 |
| Rivista: | |
| 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. |
| Handle: | http://hdl.handle.net/11577/2439234 |
| Appare nelle tipologie: | 01.01 - Articolo in rivista |
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