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Page 1
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M. Dansault A, et al. Among authors: ricquier d. Mol Vis. 2007 Apr 2;13:511-23. Mol Vis. 2007. PMID: 17417613 Free PMC article.
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: ricquier d. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.
Nübel T, Emre Y, Rabier D, Chadefaux B, Ricquier D, Bouillaud F. Nübel T, et al. Among authors: ricquier d. Biochim Biophys Acta. 2008 Jan;1777(1):48-54. doi: 10.1016/j.bbabio.2007.11.002. Epub 2007 Nov 12. Biochim Biophys Acta. 2008. PMID: 18054322 Free article.
Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.
Bonnefont JP, Bastin J, Laforêt P, Aubey F, Mogenet A, Romano S, Ricquier D, Gobin-Limballe S, Vassault A, Behin A, Eymard B, Bresson JL, Djouadi F. Bonnefont JP, et al. Among authors: ricquier d. Clin Pharmacol Ther. 2010 Jul;88(1):101-8. doi: 10.1038/clpt.2010.55. Epub 2010 May 26. Clin Pharmacol Ther. 2010. PMID: 20505667 Clinical Trial.
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: ricquier d. 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
221 results