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:
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