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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Among authors: donovan te. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: donovan te. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
141 results