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[Diagnosis and treatment of urea cycle disorders in adult patients].
Maillot F, Blasco H, Lioger B, Bigot A, Douillard C. Maillot F, et al. Among authors: bigot a. Rev Med Interne. 2016 Oct;37(10):680-684. doi: 10.1016/j.revmed.2016.02.011. Epub 2016 Mar 28. Rev Med Interne. 2016. PMID: 27032484 Review. French.
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. 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.
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: bigot a. J Rheumatol. 2021 May;48(5):735-740. doi: 10.3899/jrheum.200293. Epub 2020 Aug 15. J Rheumatol. 2021. PMID: 32801133
Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns.
Bruno C, Veyrat-Durebex C, Lumbu Lukuntonda CH, Andres CR, Moreau C, Bendavid C, Homedan C, Labarthe F, Tardieu M, Bigot A, Maillot F, Benz-de Bretagne I, Blasco H. Bruno C, et al. Among authors: bigot a. Clin Biochem. 2021 Jun;92:34-45. doi: 10.1016/j.clinbiochem.2021.03.004. Epub 2021 Mar 15. Clin Biochem. 2021. PMID: 33736999
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: bigot a. 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
211 results