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2005 1
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Page 1
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: cholet s. 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.
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, Schumann A, Hengst S, Tuncel AT, Fenaille F, Thiel C, Rymen D. Raynor A, et al. Among authors: cholet s. Proteomics Clin Appl. 2024 Mar;18(2):e2300040. doi: 10.1002/prca.202300040. Epub 2023 Oct 24. Proteomics Clin Appl. 2024. PMID: 37876147
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: cholet s. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A. Raynor A, et al. Among authors: cholet s. Clin Chim Acta. 2021 Oct;521:104-106. doi: 10.1016/j.cca.2021.07.005. Epub 2021 Jul 8. Clin Chim Acta. 2021. PMID: 34245688 Free PMC article.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A. Sakhi S, et al. Among authors: cholet s. Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34141584 Free PMC article.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Among authors: cholet s. Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7. Am J Hum Genet. 2021. PMID: 33964207 Free PMC article.
Evaluation of erythropoietin biosimilars Epotin™, Hemax® and Jimaixin™ by electrophoretic methods used for doping control analysis and specific N-glycan analysis revealed structural differences from original epoetin alfa drug Eprex®.
Capdeville P, Martin L, Cholet S, Damont A, Audran M, Ericsson M, Fenaille F, Marchand A. Capdeville P, et al. Among authors: cholet s. J Pharm Biomed Anal. 2021 Feb 5;194:113750. doi: 10.1016/j.jpba.2020.113750. Epub 2020 Nov 5. J Pharm Biomed Anal. 2021. PMID: 33234415
CDG biochemical screening: Where do we stand?
Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. Bruneel A, et al. Among authors: cholet s. Biochim Biophys Acta Gen Subj. 2020 Oct;1864(10):129652. doi: 10.1016/j.bbagen.2020.129652. Epub 2020 Jun 5. Biochim Biophys Acta Gen Subj. 2020. PMID: 32512173 Review.
22 results