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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 2
2007 4
2009 1
2010 2
2011 6
2012 5
2013 9
2014 5
2015 12
2016 10
2017 8
2018 4
2019 6
2020 4
2021 6
2022 4
2023 4
2024 2

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81 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
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.
Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 Profiles.
Larigot L, Bui LC, de Bouvier M, Pierre O, Pinon G, Fiocca J, Ozeir M, Tourette C, Ottolenghi C, Imbeaud S, Pontoizeau C, Blaise BJ, Chevallier A, Tomkiewicz C, Legrand B, Elena-Herrmann B, Néri C, Brinkmann V, Nioche P, Barouki R, Ventura N, Dairou J, Coumoul X. Larigot L, et al. Among authors: ottolenghi c. Antioxidants (Basel). 2022 May 23;11(5):1030. doi: 10.3390/antiox11051030. Antioxidants (Basel). 2022. PMID: 35624894 Free PMC article.
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis.
Hadchouel A, Drummond D, Pontoizeau C, Aoust L, Hurtado Nedelec MM, El Benna J, Gachelin E, Perisson C, Vigier C, Schiff M, Lacaille F, Molina TJ, Berteloot L, Renolleau S, Ottolenghi C, Tréluyer JM, de Blic J, Delacourt C. Hadchouel A, et al. Among authors: ottolenghi c. Eur Respir J. 2022 Apr 21;59(4):2101554. doi: 10.1183/13993003.01554-2021. Print 2022 Apr. Eur Respir J. 2022. PMID: 34503986 Free article.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. Gobin-Limballe S, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10. J Inherit Metab Dis. 2021. PMID: 34014569
81 results