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Homocystinuria in a 14-year-old girl with neurodevelopmental delay.
Mureau N, Chapart F, Perivier M, Benz-de Bretagne I, Tardieu M, Labarthe F, Khanna RK, Blasco H. Mureau N, et al. Among authors: tardieu m. J Fr Ophtalmol. 2024 Dec 13:S0181-5512(24)00331-0. doi: 10.1016/j.jfo.2024.104386. Online ahead of print. J Fr Ophtalmol. 2024. PMID: 39674690 No abstract available.
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: tardieu m. 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
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Lefort B, Gouache E, Acquaviva C, Tardieu M, Benoist JF, Dumas JF, Servais S, Chevalier S, Vianey-Saban C, Labarthe F. Lefort B, et al. Among authors: tardieu m. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1292-1299. doi: 10.1016/j.bbadis.2017.04.005. Epub 2017 Apr 6. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28392417 Free article.
Cardiolipin content is involved in liver mitochondrial energy wasting associated with cancer-induced cachexia without the involvement of adenine nucleotide translocase.
Julienne CM, Tardieu M, Chevalier S, Pinault M, Bougnoux P, Labarthe F, Couet C, Servais S, Dumas JF. Julienne CM, et al. Among authors: tardieu m. Biochim Biophys Acta. 2014 May;1842(5):726-33. doi: 10.1016/j.bbadis.2014.02.003. Epub 2014 Feb 15. Biochim Biophys Acta. 2014. PMID: 24534708 Free article.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin V.
Chazeirat T, Denamur S, Bojarski KK, Andrault PM, Sizaret D, Zhang F, Saidi A, Tardieu M, Linhardt RJ, Labarthe F, Brömme D, Samsonov SA, Lalmanach G, Lecaille F. Chazeirat T, et al. Among authors: tardieu m. Carbohydr Polym. 2021 Feb 1;253:117261. doi: 10.1016/j.carbpol.2020.117261. Epub 2020 Oct 20. Carbohydr Polym. 2021. PMID: 33278943
421 results