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208 results

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Page 1
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: ottolenghi c. 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
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.
Imbard A, de Calbiac H, Le Guillou E, Laforêt P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrère B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P. Imbard A, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2025 Jan;48(1):e12819. doi: 10.1002/jimd.12819. Epub 2024 Dec 9. J Inherit Metab Dis. 2025. PMID: 39648745 Free PMC article.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Posset R, et al. J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031. J Inherit Metab Dis. 2019. PMID: 30740724 Free PMC article.
Biomarkers improving genetic and metastatic disease prediction in paraganglioma: insights from a prospective study.
Drossart T, Buffet A, Janbain A, Ottolenghi C, Amar L, Libé R, Drui D, Lussey-Lepoutre C, Mancini M, Lounis T, Guénégou-Arnoux A, Méatchi T, Bertherat J, Burnichon N, Favier J, Gimenez-Roqueplo AP; COMETE-TACTIC Study Group. Drossart T, et al. Among authors: ottolenghi c. J Clin Endocrinol Metab. 2024 Nov 14:dgae797. doi: 10.1210/clinem/dgae797. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39541377
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.
Klank S, van Stein C, Grüneberg M, Ottolenghi C, Rauwolf KK, Grebe J, Reunert J, Harms E, Marquardt T. Klank S, et al. Among authors: ottolenghi c. Pharmaceutics. 2023 Jun 29;15(7):1851. doi: 10.3390/pharmaceutics15071851. Pharmaceutics. 2023. PMID: 37514038 Free PMC article.
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation.
Geoerger B, Schiff M, Penard-Lacronique V, Darin N, Saad SM, Duchon C, Lamazière A, Desmons A, Pontoizeau C, Berlanga P, Ducassou S, Yen K, Su M, Schenkein D, Ottolenghi C, De Botton S. Geoerger B, et al. Among authors: ottolenghi c. Nat Med. 2023 Jun;29(6):1358-1363. doi: 10.1038/s41591-023-02382-9. Epub 2023 May 29. Nat Med. 2023. PMID: 37248298
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: ottolenghi c. 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
In Vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up of IDH-Mutant Diffuse Gliomas: The IDASPE Prospective Study.
Di Stefano AL, Nichelli L, Berzero G, Valabregue R, Touat M, Capelle L, Pontoizeau C, Bielle F, Lerond J, Giry M, Villa C, Baussart B, Dehais C, Galanaud D, Baldini C, Savatovsky J, Dhermain F, Deelchand DK, Ottolenghi C, Lehéricy S, Marjańska M, Branzoli F, Sanson M. Di Stefano AL, et al. Among authors: ottolenghi c. Neurology. 2023 Jan 3;100(1):e94-e106. doi: 10.1212/WNL.0000000000201137. Epub 2022 Sep 30. Neurology. 2023. PMID: 36180241 Free PMC article.
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
Pontoizeau C, Simon-Sola M, Gaborit C, Nguyen V, Rotaru I, Tual N, Colella P, Girard M, Biferi MG, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: ottolenghi c. Nat Commun. 2022 Jun 7;13(1):3278. doi: 10.1038/s41467-022-30880-w. Nat Commun. 2022. PMID: 35672312 Free PMC article.
208 results