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Page 1
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
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: ottolenghi 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
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
Abi-Wardé MT, Roda C, Arnoux JB, Servais A, Habarou F, Brassier A, Pontoizeau C, Barbier V, Bayart M, Leboeuf V, Chadefaux-Vekemans B, Dubois S, Assoun M, Belloche C, Alili JM, Husson MC, Lesage F, Dupic L, Theuil B, Ottolenghi C, de Lonlay P. Abi-Wardé MT, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2017 Nov;40(6):783-792. doi: 10.1007/s10545-017-0083-x. Epub 2017 Sep 13. J Inherit Metab Dis. 2017. PMID: 28905140
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.
Brassier A, Krug P, Lacaille F, Pontoizeau C, Krid S, Sissaoui S, Servais A, Arnoux JB, Legendre C, Charbit M, Scemla A, Francoz C, Benoist JF, Schiff M, Mochel F, Touati G, Broué P, Cano A, Tardieu M, Querciagrossa S, Grévent D, Boyer O, Dupic L, Oualha M, Girard M, Aigrain Y, Debray D, Capito C, Ottolenghi C, Salomon R, Chardot C, de Lonlay P. Brassier A, et al. Among authors: ottolenghi c. J Inherit Metab Dis. 2020 Mar;43(2):234-243. doi: 10.1002/jimd.12174. Epub 2020 Feb 11. J Inherit Metab Dis. 2020. PMID: 31525265
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
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Pontoizeau C, Roda C, Arnoux JB, Vignolo-Diard P, Brassier A, Habarou F, Barbier V, Grisel C, Abi-Warde MT, Boddaert N, Kuster A, Servais A, Kaminska A, Hennequin C, Dupic L, Lesage F, Touati G, Valayannopoulos V, Chadefaux-Vekemans B, Oualha M, Eisermann M, Ottolenghi C, de Lonlay P. Pontoizeau C, et al. Among authors: ottolenghi c. Mol Genet Metab. 2020 Jun;130(2):110-117. doi: 10.1016/j.ymgme.2020.03.003. Epub 2020 Mar 19. Mol Genet Metab. 2020. PMID: 32273051
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P. Nizon M, et al. Among authors: ottolenghi c. Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148. Orphanet J Rare Dis. 2013. PMID: 24059531 Free PMC article.
205 results