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

Year Number of Results
2010 1
2011 1
2012 1
2013 4
2014 3
2015 2
2016 2
2017 5
2018 2
2019 4
2020 4
2021 5
2022 6
2023 4
2024 3

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39 results

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Page 1
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: pontoizeau 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. 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
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: pontoizeau c. 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.
Central nervous system complications in adult cystinosis patients.
Servais A, Saitovitch A, Hummel A, Boisgontier J, Scemla A, Sberro-Soussan R, Snanoudj R, Lemaitre H, Legendre C, Pontoizeau C, Antignac C, Anglicheau D, Funalot B, Boddaert N. Servais A, et al. Among authors: pontoizeau c. J Inherit Metab Dis. 2020 Mar;43(2):348-356. doi: 10.1002/jimd.12164. Epub 2019 Sep 18. J Inherit Metab Dis. 2020. PMID: 31444911
Autism spectrum disorders in propionic acidemia patients.
de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L. de la Bâtie CD, et al. Among authors: pontoizeau c. J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30. J Inherit Metab Dis. 2018. PMID: 28856627
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: pontoizeau 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.
Factors associated with anaemia among preschool- age children in underprivileged neighbourhoods in Antananarivo, Madagascar.
Randrianarisoa MM, Rakotondrainipiana M, Randriamparany R, Andriantsalama PV, Randrianarijaona A, Habib A, Robinson A, Raharimalala L, Hunald FA, Etienne A, Collard JM, Randrianirina F, Barouki R, Pontoizeau C, Nestoret A, Kapel N, Sansonetti P, Vonaesch P, Randremanana RV. Randrianarisoa MM, et al. Among authors: pontoizeau c. BMC Public Health. 2022 Jul 9;22(1):1320. doi: 10.1186/s12889-022-13716-6. BMC Public Health. 2022. PMID: 35810292 Free PMC 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: pontoizeau 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
39 results