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Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites.
Lefort B, Gélinas R, Forest A, Bouchard B, Daneault C, Robillard Frayne I, Roy J, Oger C, Greffard K, Galano JM, Durand T, Labarthe F, Bilodeau JF, Ruiz M, Des Rosiers C. Lefort B, et al. Among authors: labarthe f. Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166843. doi: 10.1016/j.bbadis.2023.166843. Epub 2023 Aug 7. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37558007 Free article.
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P; other members of the expert group consortium. Cano A, et al. J Inherit Metab Dis. 2026 Mar;49(2):e70160. doi: 10.1002/jimd.70160. J Inherit Metab Dis. 2026. PMID: 41702545 Free PMC article.
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F. Guertin A, et al. Among authors: labarthe f. Mol Genet Metab Rep. 2025 Nov 27;45:101279. doi: 10.1016/j.ymgmr.2025.101279. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41399536 Free PMC article.
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
Kronn D, Davison J, Broomfield A, Brassier A, Labarthe F, Hahn SH, Kumada S, Ohki H, Prakalapakorn SG, Wilson C, Haack KA, Huynh-Ba O, Richards S, Sparks S, Tammireddy S, Zhou T, Chien YH, Kishnani PS; Mini-COMET investigators. Kronn D, et al. Among authors: labarthe f. J Pediatr. 2025 Oct;285:114664. doi: 10.1016/j.jpeds.2025.114664. Epub 2025 May 29. J Pediatr. 2025. PMID: 40449831 Clinical Trial.
113 results