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Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Civit A, Gueguen P, Blasco H, Benz-de-Bretagne I, Lebredonchel É, Dingeo G, Jeanne M, Rouxel S, Tardieu M, Raynor A, Labarthe F, Bruneel A, Goetz V. Civit A, et al. Among authors: raynor a. Clin Chim Acta. 2023 Nov 1;551:117620. doi: 10.1016/j.cca.2023.117620. Epub 2023 Oct 29. Clin Chim Acta. 2023. PMID: 38375626
High CDT without clinical context: Beware of the variant.
Lebredonchel E, Raynor A, Bruneel A, Peoc'h K, Klein A. Lebredonchel E, et al. Among authors: raynor a. Clin Chim Acta. 2023 Apr 1;544:117333. doi: 10.1016/j.cca.2023.117333. Epub 2023 Apr 6. Clin Chim Acta. 2023. PMID: 37030568
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: raynor a. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
74 results