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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 51"
Page 1
Recent advances in neurometabolic diseases: The genetic role in the modern era.
Tein I. Tein I. Epilepsy Behav. 2023 Aug;145:109338. doi: 10.1016/j.yebeh.2023.109338. Epub 2023 Jul 13. Epilepsy Behav. 2023. PMID: 37453291 Review.
Most recently, rapid genomic sequencing (RGS) has been associated with a shorter time to diagnosis (3 days) and increased diagnostic yield when compared with standard-of-care testing, including gene panels and microarrays. A randomized controlled trial (RCT) of rapi …
Most recently, rapid genomic sequencing (RGS) has been associated with a shorter time to diagnosis (3 days) and increased diagnostic yield w …
Exploring the therapeutic potential of mitochondrial uncouplers in cancer.
Shrestha R, Johnson E, Byrne FL. Shrestha R, et al. Mol Metab. 2021 Sep;51:101222. doi: 10.1016/j.molmet.2021.101222. Epub 2021 Mar 26. Mol Metab. 2021. PMID: 33781939 Free PMC article. Review.
BACKGROUND: Mitochondrial uncouplers are well-known for their ability to treat a myriad of metabolic diseases, including obesity and fatty liver diseases. ...Furthermore, some mitochondrial uncouplers are now in clinical trials for cancer, altho …
BACKGROUND: Mitochondrial uncouplers are well-known for their ability to treat a myriad of metabolic diseases, including obesi …
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC. Voet NB, et al. Cochrane Database Syst Rev. 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. Cochrane Database Syst Rev. 2013. PMID: 23835682 Free article. Updated. Review.
The fourth trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondrial myopathy. ...The risk of bias of the strength training trial in myotonic dystrophy and the aerobic exercise trial in pol …
The fourth trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondria …
Perioperative management of patients with genetic multisystem diseases associated with pre-excitation.
Staikou C, Stamelos M, Stavroulakis E. Staikou C, et al. Anaesthesiol Intensive Ther. 2019;51(2):133-146. doi: 10.5114/ait.2019.86278. Anaesthesiol Intensive Ther. 2019. PMID: 31268275 Free article. Review.
Apart from the well-known Wolff-Parkinson-White syndrome, a number of rare diseases are associated with pre-excitation due to the existence of accessory pathways. ...The Danon disease, Fabry disease and Pompe disease, tuberous sclerosis, Leber hereditary optic neuropathy ( …
Apart from the well-known Wolff-Parkinson-White syndrome, a number of rare diseases are associated with pre-excitation due to the exi …
A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures.
Rossignol DA, Frye RE. Rossignol DA, et al. Mol Psychiatry. 2012 Apr;17(4):389-401. doi: 10.1038/mp.2011.165. Epub 2011 Dec 6. Mol Psychiatry. 2012. PMID: 22143005 Free PMC article. Review.
The strongest evidence was for immune dysregulation/inflammation and oxidative stress, followed by toxicant exposures and mitochondrial dysfunction. ...Prior to 1986, only 12 publications were identified in the four major areas and 51 in the four comparison a …
The strongest evidence was for immune dysregulation/inflammation and oxidative stress, followed by toxicant exposures and mitochon …
Myopathy and neuropathy associated with nucleos(t)ide analog therapy for hepatitis B.
Fleischer RD, Lok AS. Fleischer RD, et al. J Hepatol. 2009 Oct;51(4):787-91. doi: 10.1016/j.jhep.2009.06.011. Epub 2009 Jul 1. J Hepatol. 2009. PMID: 19665816 Review.
Electromyography and muscle biopsy confirmed the presence of myonecrosis. One report also found evidence of mitochondrial toxicity. The delayed onset and the finding of mitochondrial damage are reminiscent of fialuridine toxicity. Telbivudine has also been reported …
Electromyography and muscle biopsy confirmed the presence of myonecrosis. One report also found evidence of mitochondrial toxicity. T …
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.
Roe CR, Brunengraber H. Roe CR, et al. Mol Genet Metab. 2015 Dec;116(4):260-8. doi: 10.1016/j.ymgme.2015.10.005. Epub 2015 Oct 24. Mol Genet Metab. 2015. PMID: 26547562 Free PMC article.
BACKGROUND: The treatment of long-chain mitochondrial beta-oxidation disorders (LC-FOD) with a low fat-high carbohydrate diet, a diet rich in medium-even-chain triglycerides (MCT), or a combination of both has been associated with high morbidity and mortality for de …
BACKGROUND: The treatment of long-chain mitochondrial beta-oxidation disorders (LC-FOD) with a low fat-high carbohydrate diet, a diet …
Enzyme studies in biotin-responsive disorders.
Bartlett K, Ghneim HK, Stirk HJ, Wastell H. Bartlett K, et al. J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659. J Inherit Metab Dis. 1985. PMID: 2864473 Review.
There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylation of apocarboxylases due to a mutation of holocarboxylase synthetase (EC 6.3.4.10) which results in an enzyme with a high Km with respect to …
There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylatio …
Nucleoside reverse transcriptase inhibitors induced hepatocellular mitochondrial DNA lesions and compensatory enhancement of mitochondrial function and DNA repair.
Liang Q, Zeng J, Wu J, Qiao L, Chen Q, Chen D, Zhang Y. Liang Q, et al. Int J Antimicrob Agents. 2018 Mar;51(3):385-392. doi: 10.1016/j.ijantimicag.2017.08.017. Epub 2017 Aug 24. Int J Antimicrob Agents. 2018. PMID: 28843815
Laser capture microdissection was used to capture hepatocytes from liver tissues. We observed DNA oxidative damage and mitochondrial DNA (mtDNA) loss in the livers of AIDS patients, and cART patients had higher DNA oxidative damage and lower DNA repair functi …
Laser capture microdissection was used to capture hepatocytes from liver tissues. We observed DNA oxidative damage and mitochondri …
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Trinh J, et al. J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20. J Neurol. 2020. PMID: 31745726
Quantitative RT-PCR, western blot and form factor analysis were performed to assess NAXE expression, protein levels and to analyze mitochondrial morphology in fibroblasts. Vitamin B3 was administered to one patient. ...Based on the metabolic pathway, vitamin B3 and coenzym …
Quantitative RT-PCR, western blot and form factor analysis were performed to assess NAXE expression, protein levels and to analyze mitoch …
18 results