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Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Mertens M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL. Wiedemann A, et al. Among authors: rotaru i. EBioMedicine. 2024 Jan;99:104911. doi: 10.1016/j.ebiom.2023.104911. Epub 2024 Jan 1. EBioMedicine. 2024. PMID: 38168585 Free PMC article.
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, Colella P, Lamazière A, Brassier A, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: rotaru i. J Inherit Metab Dis. 2024 Jan;47(1):41-49. doi: 10.1002/jimd.12604. Epub 2023 Mar 15. J Inherit Metab Dis. 2024. PMID: 36880392
37 results