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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: 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