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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
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
Gestational age-related reference values for amniotic fluid organic acids.
Ottolenghi C, Abermil N, Lescoat A, Aupetit J, Beaugendre O, Morichon-Delvallez N, Ricquier D, Chadefaux-Vekemans B, Rabier D. Ottolenghi C, et al. Among authors: ricquier d. Prenat Diagn. 2010 Jan;30(1):43-8. doi: 10.1002/pd.2414. Prenat Diagn. 2010. PMID: 19950217
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.
220 results