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Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
de Lonlay P, Posset R, Mütze U, Mention K, Lamireau D, Schiff M, Servais A, Arnoux JB, Brassier A, Dao M, Douillard C, Ottolenghi C, Pontoizeau C, Miotto F, Le Mouhaër J. de Lonlay P, et al. Among authors: douillard c. JIMD Rep. 2021 Mar 6;59(1):110-119. doi: 10.1002/jmd2.12207. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977036 Free PMC article.
Hypoglycaemia related to inherited metabolic diseases in adults.
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC. Douillard C, et al. Orphanet J Rare Dis. 2012 May 15;7:26. doi: 10.1186/1750-1172-7-26. Orphanet J Rare Dis. 2012. PMID: 22587661 Free PMC article. Review.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Dessein AF, et al. Among authors: douillard c. Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19. Clin Chim Acta. 2017. PMID: 28532786
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).
Chabrol B, Jacquin P, Francois L, Broué P, Dobbelaere D, Douillard C, Dubois S, Feillet F, Perrier A, Fouilhoux A, Labarthe F, Lamireau D, Mazodier K, Maillot F, Mochel F, Schiff M, Belmatoug N. Chabrol B, et al. Among authors: douillard c. Arch Pediatr. 2018 Jun 15:S0929-693X(18)30115-5. doi: 10.1016/j.arcped.2018.05.009. Online ahead of print. Arch Pediatr. 2018. PMID: 29914755
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. Girard M, et al. Among authors: douillard c. J Inherit Metab Dis. 2020 Nov;43(6):1360-1369. doi: 10.1002/jimd.12289. Epub 2020 Aug 9. J Inherit Metab Dis. 2020. PMID: 33098580
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Toquet S, et al. Among authors: douillard c. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. doi: 10.1002/jimd.12403. Epub 2021 Jun 7. J Inherit Metab Dis. 2021. PMID: 34014557
87 results