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Quoted phrase not found in phrase index: "Primary coenzyme Q10 deficiency 8"
Page 1
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Emmanuele V, et al. Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosyn …
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisy …
Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Acosta MJ, et al. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060254 Free article. Review.
Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes a phosphatase required for the activation of Coq7. Mutations in human COQ genes cause primary CoQ(10) deficiency, a clinically hetero …
Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes …
Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.
Ho MJ, Bellusci A, Wright JM. Ho MJ, et al. Cochrane Database Syst Rev. 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. Cochrane Database Syst Rev. 2009. PMID: 19821418 Updated. Review.
BACKGROUND: Studies have shown that coenzyme Q10 deficiency is associated with cardiovascular disease. ...SELECTION CRITERIA: Double-blind, randomized, placebo-controlled parallel or crossover trials evaluating the BP lowering efficacy of coenzyme Q10 …
BACKGROUND: Studies have shown that coenzyme Q10 deficiency is associated with cardiovascular disease. ...SELECTION CRI …
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C. Iványi B, et al. Pediatr Nephrol. 2018 Mar;33(3):439-446. doi: 10.1007/s00467-017-3814-1. Epub 2017 Oct 14. Pediatr Nephrol. 2018. PMID: 29032433
METHODS: Coenzyme Q(10) supplementation was started because of the clinical suspicion of primary CoQ(10) deficiency. Despite intensive efforts, he passed away 4 weeks after admission. ...Both were located within the polyprenyl synthetase domain. Clinical exom …
METHODS: Coenzyme Q(10) supplementation was started because of the clinical suspicion of primary CoQ(10) deficiency. Despite i …
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863
The in vitro addition of 50 micromol/L of coenzyme Q(1) to the succinate cytochrome-c reductase assay of the patient's skeletal muscle whole homogenate increased the succinate cytochrome-c reductase activity 8-fold compared with 2.8-fold in the normal control homoge …
The in vitro addition of 50 micromol/L of coenzyme Q(1) to the succinate cytochrome-c reductase assay of the patient's skeletal muscle whole …