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Results: 1-2 |
Results: 2
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
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
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
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
Risultati: 1-2 |