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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: lebredonchel e. 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
Association between arterial stiffness and Loa loa microfilaremia in a rural area of the Republic of Congo: A population-based cross-sectional study (the MorLo project).
Campillo JT, Dupasquier V, Lebredonchel E, Rancé LG, Hemilembolo MC, Pion SDS, Boussinesq M, Missamou F, Perez Martin A, Chesnais CB. Campillo JT, et al. Among authors: lebredonchel e. PLoS Negl Trop Dis. 2024 Jan 19;18(1):e0011915. doi: 10.1371/journal.pntd.0011915. eCollection 2024 Jan. PLoS Negl Trop Dis. 2024. PMID: 38241411 Free PMC article.
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: lebredonchel e. 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.
[Junior Euromedlab 2023 feedback].
Al Samara J, Determe W, Gernez É, Lebredonchel É, Lefèvre C, Lenski M, Tikhonov A, Vaudran L. Al Samara J, et al. Among authors: lebredonchel e. Ann Biol Clin (Paris). 2023 Oct 21;81(4):425-434. doi: 10.1684/abc.2023.1821. Ann Biol Clin (Paris). 2023. PMID: 37791508 French. No abstract available.
Association between blood Loa loa microfilarial density and proteinuria levels in a rural area of the Republic of Congo (the MorLo project): a population-based cross-sectional study.
Campillo JT, Hemilembolo MC, Pion SDS, Lebredonchel E, Dupasquier V, Boullé C, Rancé LG, Boussinesq M, Missamou F, Chesnais CB. Campillo JT, et al. Among authors: lebredonchel e. Lancet Microbe. 2023 Sep;4(9):e704-e710. doi: 10.1016/S2666-5247(23)00142-8. Epub 2023 Jul 19. Lancet Microbe. 2023. PMID: 37480932 Free PMC article.
High CDT without clinical context: Beware of the variant.
Lebredonchel E, Raynor A, Bruneel A, Peoc'h K, Klein A. Lebredonchel E, et al. 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
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF, Hebbar E, Vamecq J, Lebredonchel E, Devos A, Ghoumid J, Mention K, Dobbelaere D, Chevalier-Curt MJ, Fontaine M, Defoort S, Smirnov V, Douillard C, Dhaenens CM. Dessein AF, et al. Among authors: lebredonchel e. Mol Genet Metab Rep. 2022 Mar 15;31:100860. doi: 10.1016/j.ymgmr.2022.100860. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782617 Free PMC article.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Among authors: lebredonchel e. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.
Investigating the functional link between TMEM165 and SPCA1.
Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. Lebredonchel E, et al. Biochem J. 2019 Nov 15;476(21):3281-3293. doi: 10.1042/BCJ20190488. Biochem J. 2019. PMID: 31652305
13 results