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Page 1
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I. Dupuy G, et al. Among authors: arnoux jb. Eur J Paediatr Neurol. 2024 Feb 26;50:6-15. doi: 10.1016/j.ejpn.2024.02.013. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38520815
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 Mar 3. doi: 10.1002/jimd.12724. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38433424
[New developments in neonatal screening].
Michel M, Cheillan D, Nguyen-Khoa T, Lachambre S, de Lonlay P, Arnoux JB, Courapied S, Khemiri A. Michel M, et al. Among authors: arnoux jb. Rev Prat. 2023 Dec;73(10):1119-1123. Rev Prat. 2023. PMID: 38294483 French.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P. Busiah K, et al. Among authors: arnoux jb. Mol Genet Metab. 2024 Mar;141(3):108123. doi: 10.1016/j.ymgme.2023.108123. Epub 2024 Jan 1. Mol Genet Metab. 2024. PMID: 38219674
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
Citrulline in the management of patients with urea cycle disorders.
Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P. Imbard A, et al. Among authors: arnoux jb. Orphanet J Rare Dis. 2023 Jul 21;18(1):207. doi: 10.1186/s13023-023-02800-8. Orphanet J Rare Dis. 2023. PMID: 37480106 Free PMC article.
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS. De Leon DD, et al. Among authors: arnoux jb. Horm Res Paediatr. 2024;97(3):279-298. doi: 10.1159/000531766. Epub 2023 Jul 14. Horm Res Paediatr. 2024. PMID: 37454648 Free article. Review.
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.
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, Colella P, Lamazière A, Brassier A, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: arnoux jb. J Inherit Metab Dis. 2024 Jan;47(1):41-49. doi: 10.1002/jimd.12604. Epub 2023 Mar 15. J Inherit Metab Dis. 2024. PMID: 36880392
94 results