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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: arnoux jb. 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.
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: arnoux jb. EBioMedicine. 2020 Jan;51:102623. doi: 10.1016/j.ebiom.2019.102623. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923802 Free PMC article.
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.
Charrière S, Maillot F, Bouée S, Douillard C, Jacob C, Schneider KM, Theil J, Arnoux JB. Charrière S, et al. Among authors: arnoux jb. Mol Genet Metab. 2023 Jul;139(3):107625. doi: 10.1016/j.ymgme.2023.107625. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37329624 Free article.
Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Douillard C, Arnoux JB, Bouée S, Jacob C, Schneider KM, Theil J, Charrière S, Maillot F. Douillard C, et al. Among authors: arnoux jb. Mol Genet Metab. 2023 Nov;140(3):107704. doi: 10.1016/j.ymgme.2023.107704. Epub 2023 Sep 29. Mol Genet Metab. 2023. PMID: 37812967
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: arnoux jb. 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
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Cano A, Resseguier N, Ouattara A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Chabrol B, Auquier P. Cano A, et al. Among authors: arnoux jb. J Pediatr. 2020 May;220:184-192.e6. doi: 10.1016/j.jpeds.2020.01.059. Epub 2020 Mar 4. J Pediatr. 2020. PMID: 32145964
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: arnoux jb. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
103 results