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Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome.
Kagan VE, Tyurina YY, Mikulska-Ruminska K, Damschroder D, Vieira Neto E, Lasorsa A, Kapralov AA, Tyurin VA, Amoscato AA, Samovich SN, Souryavong AB, Dar HH, Ramim A, Liang Z, Lazcano P, Ji J, Schmidtke MW, Kiselyov K, Korkmaz A, Vladimirov GK, Artyukhova MA, Rampratap P, Cole LK, Niyatie A, Baker EK, Peterson J, Hatch GM, Atkinson J, Vockley J, Kühn B, Wessells R, van der Wel PCA, Bahar I, Bayir H, Greenberg ML. Kagan VE, et al. Among authors: vieira neto e. Nat Metab. 2023 Dec;5(12):2184-2205. doi: 10.1038/s42255-023-00926-4. Epub 2023 Nov 23. Nat Metab. 2023. PMID: 37996701
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M. Bösch F, et al. Among authors: vieira neto e. J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22. J Inherit Metab Dis. 2021. PMID: 32785952