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Page 1
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Davison AS, M K, Norman BP, Bou-Gharios G, Gallagher JA, Imrich R, Arnoux JB, Rudebeck M, Olsson B. Ranganath LR, et al. Among authors: arnoux jb. Sci Rep. 2022 Sep 27;12(1):16083. doi: 10.1038/s41598-022-20424-z. Sci Rep. 2022. PMID: 36167967 Free PMC article.
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
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ; KAMPER investigators. Feillet F, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2025 Jan;48(1):e12796. doi: 10.1002/jimd.12796. Epub 2024 Sep 5. J Inherit Metab Dis. 2025. PMID: 39237321 Free PMC article.
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.
Telehuz D, Plesa O, Bouilloud F, Wucher H, De Lonlay P, Bérat CM, Saint-Martin C, Dupuy O, Arnoux JB. Telehuz D, et al. Among authors: arnoux jb. Front Endocrinol (Lausanne). 2024 Jun 17;15:1408003. doi: 10.3389/fendo.2024.1408003. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38952388 Free PMC article.
103 results