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Page 1
Psychiatric adult-onset of urea cycle disorders: A case-series.
Bigot A, Brunault P, Lavigne C, Feillet F, Odent S, Kaphan E, Thauvin C, Leguy V, Broué P, Tchan MC, Maillot F. Bigot A, et al. Among authors: maillot f. Mol Genet Metab Rep. 2017 Jul 6;12:103-109. doi: 10.1016/j.ymgmr.2017.07.001. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28725569 Free PMC article.
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: maillot f. 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
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah A, Jeannesson-Thivisol E, Chéry C, Perrin P, Rouyer P, Josse T, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, De Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Rodriguez-Guéant RM, Feillet F, Guéant JL, Namour F. Oussalah A, et al. Among authors: maillot f. EBioMedicine. 2020 Jan;51:102623. doi: 10.1016/j.ebiom.2019.102623. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923802 Free PMC article.
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. MacDonald A, et al. Among authors: maillot f. Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9. Mol Genet Metab. 2015. PMID: 26498184
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: maillot f. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article.
IgA Vasculitis With Underlying Liver Cirrhosis: A French Nationwide Case Series of 20 Patients.
Elhani I, Pillebout E, Terrier B, Hankard A, Vrtovsnik F, Jourde-Chiche N, Greillier S, Groh M, Belfeki N, Bigot A, de Boysson H, Pageaux GP, Raffray L, Urbanski G, Ollivier I, Maillot F, Aouba A, Audemard-Verger A; Alexandra Audemard-Verger on behalf of the French Vasculitis Study Group (FVSG) and the HSPrognosis Group. Elhani I, et al. Among authors: maillot f. J Rheumatol. 2021 May;48(5):735-740. doi: 10.3899/jrheum.200293. Epub 2020 Aug 15. J Rheumatol. 2021. PMID: 32801133
197 results