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:
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