BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 30744648)

  • 1. Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.
    Hornby B; McClellan R; Buckley L; Carson K; Gooding T; Vernon HJ
    Orphanet J Rare Dis; 2019 Jan; 14(1):37. PubMed ID: 30744648
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.
    Spencer CT; Byrne BJ; Bryant RM; Margossian R; Maisenbacher M; Breitenger P; Benni PB; Redfearn S; Marcus E; Cade WT
    Am J Physiol Heart Circ Physiol; 2011 Nov; 301(5):H2122-9. PubMed ID: 21873497
    [TBL] [Abstract][Full Text] [Related]  

  • 3. New targets for monitoring and therapy in Barth syndrome.
    Thompson WR; DeCroes B; McClellan R; Rubens J; Vaz FM; Kristaponis K; Avramopoulos D; Vernon HJ
    Genet Med; 2016 Oct; 18(10):1001-10. PubMed ID: 26845103
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
    Cade WT; Bohnert KL; Peterson LR; Patterson BW; Bittel AJ; Okunade AL; de Las Fuentes L; Steger-May K; Bashir A; Schweitzer GG; Chacko SK; Wanders RJ; Pacak CA; Byrne BJ; Reeds DN
    J Inherit Metab Dis; 2019 May; 42(3):480-493. PubMed ID: 30924938
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.
    Hornby B; Thompson WR; Almuqbil M; Manuel R; Abbruscato A; Carr J; Vernon HJ
    Orphanet J Rare Dis; 2022 Sep; 17(1):336. PubMed ID: 36056411
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data.
    Van den Eynde J; Chinni B; Vernon H; Thompson WR; Hornby B; Kutty S; Manlhiot C
    Orphanet J Rare Dis; 2023 Apr; 18(1):76. PubMed ID: 37041653
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome.
    Bashir A; Bohnert KL; Reeds DN; Peterson LR; Bittel AJ; de Las Fuentes L; Pacak CA; Byrne BJ; Cade WT
    Physiol Rep; 2017 Feb; 5(3):. PubMed ID: 28196853
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies.
    Cade WT; Bohnert KL; Reeds DN; Peterson LR; Bittel AJ; Bashir A; Byrne BJ; Taylor CL
    PLoS One; 2018; 13(5):e0197776. PubMed ID: 29795646
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Quality of life in Barth syndrome.
    Kim AY; Vernon H; Manuel R; Almuqbil M; Hornby B
    Ther Adv Rare Dis; 2022; 3():26330040221093743. PubMed ID: 37180415
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.
    Bittel AJ; Bohnert KL; Reeds DN; Peterson LR; de Las Fuentes L; Corti M; Taylor CL; Byrne BJ; Cade WT
    JIMD Rep; 2018; 41():63-72. PubMed ID: 29654548
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults.
    Gwaltney C; Stokes J; Aiudi A; Mazar I; Ollis S; Love E; Shields A
    Orphanet J Rare Dis; 2021 Jun; 16(1):264. PubMed ID: 34108006
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Barth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation.
    Greenwell AA; Gopal K; Altamimi TR; Saed CT; Wang F; Tabatabaei Dakhili SA; Ho KL; Zhang L; Eaton F; Kruger J; Al Batran R; Lopaschuk GD; Oudit GY; Ussher JR
    Am J Physiol Heart Circ Physiol; 2021 Jun; 320(6):H2255-H2269. PubMed ID: 33929899
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
    Bowron A; Honeychurch J; Williams M; Tsai-Goodman B; Clayton N; Jones L; Shortland GJ; Qureshi SA; Heales SJ; Steward CG
    J Inherit Metab Dis; 2015 Mar; 38(2):279-86. PubMed ID: 25112388
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Barth syndrome.
    Jefferies JL
    Am J Med Genet C Semin Med Genet; 2013 Aug; 163C(3):198-205. PubMed ID: 23843353
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.
    Mazar I; Stokes J; Ollis S; Love E; Espensen A; Barth PG; Powers JH; Shields AL
    Orphanet J Rare Dis; 2019 Nov; 14(1):243. PubMed ID: 31699126
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
    Roberts AE; Nixon C; Steward CG; Gauvreau K; Maisenbacher M; Fletcher M; Geva J; Byrne BJ; Spencer CT
    Am J Med Genet A; 2012 Nov; 158A(11):2726-32. PubMed ID: 23045169
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Barth syndrome.
    Clarke SL; Bowron A; Gonzalez IL; Groves SJ; Newbury-Ecob R; Clayton N; Martin RP; Tsai-Goodman B; Garratt V; Ashworth M; Bowen VM; McCurdy KR; Damin MK; Spencer CT; Toth MJ; Kelley RI; Steward CG
    Orphanet J Rare Dis; 2013 Feb; 8():23. PubMed ID: 23398819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phospholipid abnormalities in children with Barth syndrome.
    Schlame M; Kelley RI; Feigenbaum A; Towbin JA; Heerdt PM; Schieble T; Wanders RJ; DiMauro S; Blanck TJ
    J Am Coll Cardiol; 2003 Dec; 42(11):1994-9. PubMed ID: 14662265
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.
    Reid Thompson W; Hornby B; Manuel R; Bradley E; Laux J; Carr J; Vernon HJ
    Genet Med; 2021 Mar; 23(3):471-478. PubMed ID: 33077895
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.
    Kang SL; Forsey J; Dudley D; Steward CG; Tsai-Goodman B
    Pediatr Cardiol; 2016 Jan; 37(1):167-76. PubMed ID: 26337810
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.