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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: wiedemann a. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
[Cyclic vomiting syndrome in children].
Brezin F, Wiedemann A, Feillet F. Brezin F, et al. Among authors: wiedemann a. Arch Pediatr. 2017 Nov;24(11):1129-1136. doi: 10.1016/j.arcped.2017.08.010. Epub 2017 Sep 22. Arch Pediatr. 2017. PMID: 28947248 French.
[Phenylketonuria, from diet to gene therapy].
Wiedemann A, Oussalah A, Jeannesson É, Guéant JL, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2020 Aug-Sep;36(8-9):725-734. doi: 10.1051/medsci/2020127. Epub 2020 Aug 21. Med Sci (Paris). 2020. PMID: 32821049 Free article. Review. French.
[Newborn screening of phenylketonuria in France].
Wiedemann A, Jeannesson É, Oussalah A, Guéant JL, Guéant-Rodriguez RM, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2021 May;37(5):468-473. doi: 10.1051/medsci/2021061. Epub 2021 May 18. Med Sci (Paris). 2021. PMID: 34003092 Free article. French.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P. Wicker C, et al. Among authors: wiedemann a. Mol Genet Metab. 2023 Nov;140(3):107674. doi: 10.1016/j.ymgme.2023.107674. Epub 2023 Jul 31. Mol Genet Metab. 2023. PMID: 37542768
391 results