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Results: 1-5 |
Results: 5

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: Cohen, I Guillerault, F Girard, J Prip-Buus, C
Citation: I. Cohen et al., The N-terminal domain of rat liver carnitine palmitoyltransferase 1 contains an internal mitochondrial import signal and residues essential for folding of its C-terminal catalytic domain, J BIOL CHEM, 276(7), 2001, pp. 5403-5411

Authors: Pequignot, MO Desguerre, I Dey, R Tartari, M Zeviani, M Agostino, A Benelli, C Fouque, F Prip-Buus, C Marchant, D Abitbol, M Marsac, C
Citation: Mo. Pequignot et al., New splicing-site mutations in the SURF1 gene in Leigh syndrome patients, J BIOL CHEM, 276(18), 2001, pp. 15326-15329

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
Risultati: 1-5 |