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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.
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
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Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Charcosset M, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A.
Charcosset M, et al.
Mol Genet Metab. 2008 Jan;93(1):74-84. doi: 10.1016/j.ymgme.2007.08.120. Epub 2007 Oct 22.
Mol Genet Metab. 2008.
PMID: 17945526
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Relation between XbA1 apolipoprotein B gene polymorphism and cardiovascular risk in a type 2 diabetic cohort.
Bernard S, Charrière S, Charcosset M, Berthezène F, Moulin P, Sassolas A.
Bernard S, et al. Among authors: charcosset m.
Atherosclerosis. 2004 Jul;175(1):177-81. doi: 10.1016/j.atherosclerosis.2004.03.017.
Atherosclerosis. 2004.
PMID: 15186963
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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
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False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?
Cheillan D, Vercherat M, Chevalier-Porst F, Charcosset M, Rolland MO, Dorche C.
Cheillan D, et al. Among authors: charcosset m.
J Inherit Metab Dis. 2005;28(6):813-8. doi: 10.1007/s10545-005-0067-0.
J Inherit Metab Dis. 2005.
PMID: 16435172
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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
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