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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 7"
Page 1
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y. Zhang Q, et al. Genes (Basel). 2023 Feb 22;14(3):552. doi: 10.3390/genes14030552. Genes (Basel). 2023. PMID: 36980825 Free PMC article.
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation Deficiency 23 (COXPD23). ...We observed arrhythmia and congestive heart failure frequently in the severe type with early childhood mo …
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation …
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 …
Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes.
Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI. Petersen KF, et al. N Engl J Med. 2004 Feb 12;350(7):664-71. doi: 10.1056/NEJMoa031314. N Engl J Med. 2004. PMID: 14960743 Free PMC article.
We performed (31)P magnetic resonance spectroscopy studies to assess the rates of mitochondrial oxidative-phosphorylation activity in muscle. RESULTS: The insulin-stimulated rate of glucose uptake by muscle was approximately 60 percent lower in the insulin-resistant …
We performed (31)P magnetic resonance spectroscopy studies to assess the rates of mitochondrial oxidative-phosphorylation acti …