Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2007 | 1 |
2008 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 9"
Page 1
Cardiac manifestations in oxidative phosphorylation disorders of childhood.
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 …
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 …
Item in Clipboard
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S.
Cízková A, et al.
BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38.
BMC Genomics. 2008.
PMID: 18221507
Free PMC article.
RESULTS: Molecular studies, in combination with unsupervised clustering methods, defined three subgroups of patient cell lines--M group with mtDNA mutation and N1 and N2 groups with nuclear defect. ...Evaluation of individual gene expression profiles confirmed alrea …
RESULTS: Molecular studies, in combination with unsupervised clustering methods, defined three subgroups of patient cell lines--M gro …
Item in Clipboard
Cite
Cite