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Page 1
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: barbier v. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P. Valayannopoulos V, et al. Among authors: barbier v. J Inherit Metab Dis. 2012 Jan;35(1):151-7. doi: 10.1007/s10545-011-9358-9. Epub 2011 Jun 10. J Inherit Metab Dis. 2012. PMID: 21660517
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: barbier v. 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.
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P. Brassier A, et al. Among authors: barbier v. Orphanet J Rare Dis. 2015 May 10;10:58. doi: 10.1186/s13023-015-0266-1. Orphanet J Rare Dis. 2015. PMID: 25958381 Free PMC article.
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F, Brassier A, Rio M, Chrétien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P. Habarou F, et al. Among authors: barbier v. Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649521 Free PMC article.
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P. Valayannopoulos V, et al. Among authors: barbier v. Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31. Mol Genet Metab. 2009. PMID: 19345633
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: barbier v. Mol Genet Metab. 2009 Jul;97(3):172-8. doi: 10.1016/j.ymgme.2009.03.006. Epub 2009 Mar 24. Mol Genet Metab. 2009. PMID: 19375370
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: barbier v. 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
90 results