NG.O.12 - A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency
| Autor: | Malicdan, M., Vilboux, T., Ben-Zeev, B., Guo, J., Eliyahu, A., Pode-Shakked, B., Dori, A., Kakani, S., Chandrasekharappa, S., Ferreira, C., Shelestovich, N., Marek-Yagel, D., Pri-Chen, H., Blat, I., Niederhuber, J., Toro, C., Deeken, J., Yardeni, T., Wallace, D., Gahl, W., Anikster, Y. |
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| Zdroj: | In Neuromuscular Disorders October 2017 27 Supplement 2:S176-S176 |
| Databáze: | ScienceDirect |
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