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Results: 1-4 |
Results: 4

Authors: Benoist, JF Acquaviva, C Callebaut, I Guffon, N de Baulny, HO Mornon, JP Porquet, D Elion, J
Citation: Jf. Benoist et al., Molecular and structural analysis of two novel mutations in a patient withMut(-) methylmalanyl-CoA deficiency, MOL GEN MET, 72(2), 2001, pp. 181-184

Authors: Acquaviva, C Benoist, JF Callebaut, I Guffon, N de Baulny, HO Touati, G Aydin, A Porquet, D Elion, J
Citation: C. Acquaviva et al., N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients, EUR J HUM G, 9(8), 2001, pp. 577-582

Authors: Cochat, P Dubourg, L Ranchin, B Fauriel, I Guffon, N Liutkus, A
Citation: P. Cochat et al., New forms of renal insufficiency, ARCH PED, 8, 2001, pp. 317S-318S

Authors: Eng, CM Guffon, N Wilcox, WR Germain, DP Lee, P Waldek, S Caplan, L Linthorst, GE Desnick, RJ
Citation: Cm. Eng et al., Safety and efficacy of recombinant human alpha-galactosidase a replacementtherapy in Fabry's disease., N ENG J MED, 345(1), 2001, pp. 9-16
Risultati: 1-4 |