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Current and future treatment approaches for Barth syndrome.
Thompson R, Jefferies J, Wang S, Pu WT, Takemoto C, Hornby B, Heyman A, Chin MT, Vernon HJ. Thompson R, et al. Among authors: hornby b. J Inherit Metab Dis. 2022 Jan;45(1):17-28. doi: 10.1002/jimd.12453. Epub 2021 Nov 10. J Inherit Metab Dis. 2022. PMID: 34713454 Review.
Quality of life in Barth syndrome.
Kim AY, Vernon H, Manuel R, Almuqbil M, Hornby B. Kim AY, et al. Among authors: hornby b. Ther Adv Rare Dis. 2022 Jun 11;3:26330040221093743. doi: 10.1177/26330040221093743. eCollection 2022 Jan-Dec. Ther Adv Rare Dis. 2022. PMID: 37180415 Free PMC article.
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. Reid Thompson W, et al. Among authors: hornby b. Genet Med. 2021 Mar;23(3):471-478. doi: 10.1038/s41436-020-01006-8. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077895 Free PMC article. Clinical Trial.