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Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
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.
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Cited by
Neuroprotective Effect of Antioxidants in the Brain
Lee, K. H., Cha, M., & Lee, B. H. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197152 · Cited by 502
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45693 · Cited by 398
Self-citationMitochondrial dysfunction in inherited renal disease and acute kidney injury
Emma, F., Montini, G., Parikh, S. M., & Salviati, L. (2016) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.214 · Cited by 398
Self-citationLópez, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/510023 · Cited by 395
Self-citationQuinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/500092 · Cited by 353
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Metadata
- Authors
- Salviati, L., Sacconi, S., Murer, L., Zacchello, G., Franceschini, L., Laverda, A. M., Basso, G., Quinzii, C., Angelini, C., Hirano, M., Naini, A. B., Navas, P., DiMauro, S., & Montini, G.
- Venue
- Neurology
- Published
- 2005-08-23
- Volume
- 65
- Issue
- 4
- Pages
- 606-608
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2125140996
- Cited by
- 197
- References
- 0
- FWCI
- 3.80
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition. https://app.cochat.ai/papers/10.1212/01.wnl.0000172859.55579.a7
- The paper
- Salviati, L., Sacconi, S., Murer, L., Zacchello, G., Franceschini, L., Laverda, A. M., Basso, G., Quinzii, C., Angelini, C., Hirano, M., Naini, A. B., Navas, P., DiMauro, S., & Montini, G. (2005). Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition. Neurology. https://doi.org/10.1212/01.wnl.0000172859.55579.a7
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
