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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 4"
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Cardiac manifestations in oxidative phosphorylation disorders of childhood.
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Yaplito-Lee J, et al. J Pediatr. 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. J Pediatr. 2007. PMID: 17382120
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylation (OXPHOS) disorders. ...A change in the type of cardiomyopathy was noted on follow-up in 2 patients. Conduction and rhy …
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosp …
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Eur J Hum Genet. 2011 Apr;19(4):394-9. doi: 10.1038/ejhg.2010.214. Epub 2010 Dec 29. Eur J Hum Genet. 2011. PMID: 21189481 Free PMC article.
The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits are synthesized by the mitochondrial translation machinery. We report a patient with Cornelia de Lange-like dysmorphic features, brain ab …
The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits …