Combined Oxidative Phosphorylation Deficiency (COXPD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1729-1
Reference10 articles.
1. Djouadi F, Bastin J (2019) Mitochondrial genetic disorders: cell signaling and pharmacological therapies. Cell 8(4):289. https://doi.org/10.3390/cells8040289
2. Kemp JP et al (2011) Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 134:183–195. https://doi.org/10.1093/brain/awq320
3. Koopman WJ, Willems PH, Smeitink JA (2012) Monogenic mitochondrial disorders. N Engl J Med 366:1132–1141. https://doi.org/10.1056/NEJMra1012478
4. Mayr JA et al (2015) Spectrum of combined respiratory chain defects. J Inherit Metab Dis 38:629–640. https://doi.org/10.1007/s10545-015-9831-y
5. Reinecke F, Smeitink JA, van der Westhuizen FH (2009) OXPHOS gene expression and control in mitochondrial disorders. Biochim Biophys Acta 1792:1113–1121. https://doi.org/10.1016/j.bbadis.2009.04.003
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