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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.
Depending upon the clinical phenotype, current genetic testing may include chromosomal microarray (deletion/duplication analysis), single target gene sequencing, gene panels (sequencing and deletion/duplication analysis), DNA methylation analysis, mitochondrial nuclear gen …
Depending upon the clinical phenotype, current genetic testing may include chromosomal microarray (deletion/duplication analysis), single ta …
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 third trial compared strength training versus no training in a factorial trial that also compared albuterol with placebo, in 65 people with facioscapulohumeral muscular dystrophy (FSHD). The fourth trial compared combined strength training and aerobic exercise versus n …
The third trial compared strength training versus no training in a factorial trial that also compared albuterol with placebo, in 65 people w …
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.
Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N. Bricout M, et al. J Med Genet. 2014 Jul;51(7):429-35. doi: 10.1136/jmedgenet-2013-102256. Epub 2014 May 1. J Med Genet. 2014. PMID: 24793058 Review.
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. ...We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular gen …
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. ...We b …
Protein array autoantibody profiles to determine diagnostic markers for neuropsychiatric systemic lupus erythematosus.
van der Meulen PM, Barendregt AM, Cuadrado E, Magro-Checa C, Steup-Beekman GM, Schonenberg-Meinema D, Van den Berg JM, Li QZ, Baars PA, Wouters D, Voskuyl AE, Ten Berge IRJM, Huizinga TWJ, Kuijpers TW. van der Meulen PM, et al. Rheumatology (Oxford). 2017 Aug 1;56(8):1407-1416. doi: 10.1093/rheumatology/kex073. Rheumatology (Oxford). 2017. PMID: 28460084

The combination of IgG autoAbs against heparan sulphate, histone H2B and vimentin could differentiate NPSLE from non-NPSLE (area under the curve 0.845, 99.97% CI: 0.756, 0.933; P < 0.0001). ...CONCLUSION: In our cohort, the presence of high levels of anti-heparan sulpha

…
The combination of IgG autoAbs against heparan sulphate, histone H2B and vimentin could differentiate NPSLE from non-NPSLE (area unde …
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. STUDY DESIGN: Retrospective review of clinical and laboratory records of all patients with definitive OXPHOS dis …
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylat …
Short Communication: Diagnosis of Pneumocystis jirovecii Pneumonia by Detection of DNA in Blood and Oropharyngeal Wash, Compared with Sputum.
van Halsema C, Johnson L, Baxter J, Douthwaite S, Clowes Y, Guiver M, Ustianowski A. van Halsema C, et al. AIDS Res Hum Retroviruses. 2016 May;32(5):463-6. doi: 10.1089/AID.2015.0213. Epub 2016 Feb 11. AIDS Res Hum Retroviruses. 2016. PMID: 26739439
We prospectively recruited consenting adults with symptoms consistent with PCP. Real-time PCR targeted the Pneumocystis mitochondrial large subunit ribosomal RNA gene, using the aforementioned specimens. ...Including only samples obtained 2 days after start of treatment, s …
We prospectively recruited consenting adults with symptoms consistent with PCP. Real-time PCR targeted the Pneumocystis mitochondrial …
Case report: lactic acidosis and rhabdomyolysis during telbivudine and tenofovir treatment for chronic hepatitis B.
Ying Y, Hu YK, Jin JL, Zhang JM, Zhang WH, Huang YX. Ying Y, et al. BMC Gastroenterol. 2018 Apr 6;18(1):45. doi: 10.1186/s12876-018-0773-3. BMC Gastroenterol. 2018. PMID: 29625557 Free PMC article.
As mitochondria are the main sites of oxidative phosphorylation, there will be an increase of pyruvate reduction to lactic acid and insufficient adenosine triphosphate. ...CONCLUSIONS: This case shows that tenofovir may trigger muscle damage and fatal RM in combi …
As mitochondria are the main sites of oxidative phosphorylation, there will be an increase of pyruvate reduction to lactic aci …
Stroke in Saudi children. Epidemiology, clinical features and risk factors.
Salih MA, Abdel-Gader AG, Al-Jarallah AA, Kentab AY, Alorainy IA, Hassan HH, Bahakim HM, Kurbaan KM, Zahraa JN, Al-Nasser MN, Nasir AA, Khoja WA, Kabiraj MM. Salih MA, et al. Saudi Med J. 2006 Mar;27 Suppl 1:S12-20. Saudi Med J. 2006. PMID: 16532126
Ischemic strokes accounted for the majority of cases (76%). Large-vessel infarcts (LVI, 51.9%) were more common than small-vessel lacunar lesions (SVLL, 19.2%). Five patients (4.8%) had combined LVI and SVLL. Intracranial hemorrhage was less common (18.2%), whereas …
Ischemic strokes accounted for the majority of cases (76%). Large-vessel infarcts (LVI, 51.9%) were more common than small-vessel lac …
African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of beta-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus.
Sun J, Brown TT, Tong W, Samuels D, Tien P, Aissani B, Aouizerat B, Villacres M, Kuniholm MH, Gustafson D, Michel K, Cohen M, Schneider M, Adimora AA, Ali MK, Bolivar H, Hulgan T. Sun J, et al. Clin Infect Dis. 2020 Nov 5;71(8):e218-e225. doi: 10.1093/cid/ciaa026. Clin Infect Dis. 2020. PMID: 31927570 Free PMC article.
BACKGROUND: Susceptibility to metabolic diseases may be influenced by mitochondrial genetic variability among people living with human immunodeficiency virus (HIV; PLWH), but remains unexplored in populations with African ancestry. ...PLWH with haplogroup L2 had a s …
BACKGROUND: Susceptibility to metabolic diseases may be influenced by mitochondrial genetic variability among people living wi …
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 …
19 results