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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Schwahn BC, Hart C, Smith LA, Hart A, Fairbanks L, Arenas-Hernandez M, Turner C, Horman A, Rust S, Santamaria-Araujo JA, Mayr SJ, Schwarz G, Sharrard M. Schwahn BC, et al. Among authors: rust s. Mol Genet Metab. 2024 Dec;143(4):108598. doi: 10.1016/j.ymgme.2024.108598. Epub 2024 Oct 29. Mol Genet Metab. 2024. PMID: 39488078
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. Muenzer J, et al. Among authors: rust s. J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39252529
Author Correction: Cytotoxicity, mutagenicity and genotoxicity of electronic cigarettes emission aerosols compared to cigarette smoke: the REPLICA project.
Emma R, Fuochi V, Distefano A, Partsinevelos K, Rust S, Zadjali F, Al Tobi M, Zadjali R, Alharthi Z, Pulvirenti R, Furneri PM, Polosa R, Sun A, Caruso M, Li Volti G; Replica Project Group. Emma R, et al. Among authors: rust s. Sci Rep. 2024 May 1;14(1):10018. doi: 10.1038/s41598-024-53036-w. Sci Rep. 2024. PMID: 38693204 Free PMC article. No abstract available.
247 results