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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 54"
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Mitochondrial disease and epilepsy.
Rahman S. Rahman S. Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Dev Med Child Neurol. 2012. PMID: 22283595 Free article. Review.
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. ...Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. ...
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence …
Circulating pyruvate is a potent prognostic marker for critical COVID-19 outcomes.
Ceperuelo-Mallafré V, Reverté L, Peraire J, Madeira A, Maymó-Masip E, López-Dupla M, Gutierrez-Valencia A, Ruiz-Mateos E, Buzón MJ, Jorba R, Vendrell J, Auguet T, Olona M, Vidal F, Rull A, Fernández-Veledo S. Ceperuelo-Mallafré V, et al. Front Immunol. 2022 Sep 14;13:912579. doi: 10.3389/fimmu.2022.912579. eCollection 2022. Front Immunol. 2022. PMID: 36189213 Free PMC article.
We hypothesized that examining mitochondrial energy-related signalling metabolites implicated in host immune response to SARS-CoV-2 infection would provide potential biomarkers for predicting the risk of severe COVID-19 illness. ...CONCLUSION: Our findings support t …
We hypothesized that examining mitochondrial energy-related signalling metabolites implicated in host immune response to SARS-CoV-2 i …
Association of Mitochondrial DNA Copy Number With Cardiovascular Disease.
Ashar FN, Zhang Y, Longchamps RJ, Lane J, Moes A, Grove ML, Mychaleckyj JC, Taylor KD, Coresh J, Rotter JI, Boerwinkle E, Pankratz N, Guallar E, Arking DE. Ashar FN, et al. JAMA Cardiol. 2017 Nov 1;2(11):1247-1255. doi: 10.1001/jamacardio.2017.3683. JAMA Cardiol. 2017. PMID: 29049454 Free PMC article.
IMPORTANCE: Mitochondrial dysfunction is a core component of the aging process and may play a key role in atherosclerotic cardiovascular disease. Mitochondrial DNA copy number (mtDNA-CN), which represents the number of mitochondria per cell and number of mitochon …
IMPORTANCE: Mitochondrial dysfunction is a core component of the aging process and may play a key role in atherosclerotic cardiovascu …
Outcome of organic acidurias in China.
Yang Y, Yao Z, Song J, Hasegawa Y, Kimura M, Yamaguchi S, Jiang Y, Qin J, Wu X. Yang Y, et al. Ann Acad Med Singap. 2008 Dec;37(12 Suppl):120-3. Ann Acad Med Singap. 2008. PMID: 19904473 Free article.
Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined with homocysteinemia. Sixteen (9.5%) of those patients detected with organic acidurias had propionic aciduria, and 15 (8.9%) had multiple carb …
Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined wi …
Most Influential Physicochemical and In Vitro Assay Descriptors for Hepatotoxicity and Nephrotoxicity Prediction.
Rana P, Kogut S, Wen X, Akhlaghi F, Aleo MD. Rana P, et al. Chem Res Toxicol. 2020 Jul 20;33(7):1780-1790. doi: 10.1021/acs.chemrestox.0c00040. Epub 2020 May 8. Chem Res Toxicol. 2020. PMID: 32338883
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery and development process to predict drug safety. In this study, we combined physicochemical properties and in vitro cytotoxicit …
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery …
Mitochondrial genetic haplogroups and cardiovascular diseases: Data from the Osteoarthritis Initiative.
Veronese N, Stubbs B, Koyanagi A, Vaona A, Demurtas J, Schofield P, Maggi S. Veronese N, et al. PLoS One. 2019 Mar 28;14(3):e0213656. doi: 10.1371/journal.pone.0213656. eCollection 2019. PLoS One. 2019. PMID: 30921349 Free PMC article.
BACKGROUND: Some case-control studies reported that mitochondrial haplogroups could be associated with the onset of cardiovascular diseases (CVD), but the literature regarding this topic is limited. ...MATERIALS AND METHODS: A longitudinal cohort study including ind …
BACKGROUND: Some case-control studies reported that mitochondrial haplogroups could be associated with the onset of cardiovascular …
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.
Zhang AM, Bi R, Hu QX, Fan Y, Zhang Q, Yao YG. Zhang AM, et al. Mol Neurobiol. 2017 Apr;54(3):1622-1630. doi: 10.1007/s12035-016-9771-z. Epub 2016 Feb 11. Mol Neurobiol. 2017. PMID: 26867657
While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic neuropathy (LHON), a significant proportion of them does not have mtDNA mutation and is caused by mutations in genes of the nuclear genome. …
While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic …