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Page 1
Current and future treatment approaches for Barth syndrome.
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.
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C, Rao ES, Pierre G, Chronopoulou E, Hornby B, Heyman A, Vernon HJ.
Taylor C, et al. Among authors: hornby b.
J Inherit Metab Dis. 2022 Jan;45(1):7-16. doi: 10.1002/jimd.12422. Epub 2021 Aug 15.
J Inherit Metab Dis. 2022.
PMID: 34355402
Review.
Item in Clipboard
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.
Item in Clipboard
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.
Van den Eynde J, et al. Among authors: hornby b.
Orphanet J Rare Dis. 2023 Apr 11;18(1):76. doi: 10.1186/s13023-023-02676-8.
Orphanet J Rare Dis. 2023.
PMID: 37041653
Free PMC article.
Clinical Trial.
Item in Clipboard
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.
Hornby B, et al.
Orphanet J Rare Dis. 2022 Sep 2;17(1):336. doi: 10.1186/s13023-022-02469-5.
Orphanet J Rare Dis. 2022.
PMID: 36056411
Free PMC article.
Clinical Trial.
Item in Clipboard
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.
Hornby B, McClellan R, Buckley L, Carson K, Gooding T, Vernon HJ.
Hornby B, et al.
Orphanet J Rare Dis. 2019 Jan 22;14(1):37. doi: 10.1186/s13023-019-1006-8.
Orphanet J Rare Dis. 2019.
PMID: 30744648
Free PMC article.
Item in Clipboard
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.
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