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Results: 1-6 |
Results: 6

Authors: Prip-Buus, C Thuillier, L Abadi, N Prasad, C Dilling, L Klasing, J Demaugre, F Greenberg, CR Haworth, JC Droin, V Kadhom, N Gobin, S Kamoun, P Girard, J Bonnefont, JP
Citation: C. Prip-buus et al., Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community, MOL GEN MET, 73(1), 2001, pp. 46-54

Authors: Prasad, C Johnson, JP Bonnefont, JP Dilling, LA Innes, AM Haworth, JC Beischel, L Thuillier, L Prip-Buus, C Singal, R Thompson, JRG Prasad, AN Buist, N Greenberg, CR
Citation: C. Prasad et al., Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program, MOL GEN MET, 73(1), 2001, pp. 55-63

Authors: Thuillier, L Sevin, C Demaugre, F Brivet, M Rabier, D Droin, V Aupetit, J Abadi, N Kamoun, P Saudubray, JM Bonnefont, JP
Citation: L. Thuillier et al., Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient, NEUROMUSC D, 10(3), 2000, pp. 200-205

Authors: Bonnefont, JP Demaugre, F Prip-Buus, C Saudubray, JM Brivet, M Abadi, N Thuillier, L
Citation: Jp. Bonnefont et al., Carnitine palmitoyltransferase deficiencies, MOL GEN MET, 68(4), 1999, pp. 424-440

Authors: Brivet, M Boutron, A Slama, A Costa, C Thuillier, L Demaugre, F Rabier, D Saudubray, JM Bonnefont, JP
Citation: M. Brivet et al., Defects in activation and transport of fatty acids, J INH MET D, 22(4), 1999, pp. 428-441

Authors: Thuillier, L Chadefaux-Vekemans, B Bonnefont, JP Kara, A Aupetit, J Rochette, C Montalescot, G Couty, MC Kamoun, P Ankri, A
Citation: L. Thuillier et al., Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?, J INH MET D, 21(8), 1998, pp. 812-822
Risultati: 1-6 |