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Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal. Peretti N, et al. Among authors: charcosset m. Orphanet J Rare Dis. 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. Orphanet J Rare Dis. 2010. PMID: 20920215 Free PMC article. Review.
Chylomicron retention disease: a long term study of two cohorts.
Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl MC, Labarge S, Bouvier R, Samson-Bouma ME, Charcosset M, Lachaux A, Levy E. Peretti N, et al. Among authors: charcosset m. Mol Genet Metab. 2009 Jun;97(2):136-42. doi: 10.1016/j.ymgme.2009.02.003. Epub 2009 Feb 20. Mol Genet Metab. 2009. PMID: 19285442
Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.
Charrière S, Cugnet C, Guitard M, Bernard S, Groisne L, Charcosset M, Pruneta-Deloche V, Merlin M, Billon S, Delay M, Sassolas A, Moulin P, Marçais C. Charrière S, et al. Among authors: charcosset m. Atherosclerosis. 2009 Nov;207(1):150-6. doi: 10.1016/j.atherosclerosis.2009.04.021. Epub 2009 Apr 24. Atherosclerosis. 2009. PMID: 19447388
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Leimkühler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J. Leimkühler S, et al. Among authors: charcosset m. Hum Genet. 2005 Oct;117(6):565-70. doi: 10.1007/s00439-005-1341-9. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021469