Authors: Ribeiro, I Marcao, A Amaral, O Miranda, MCS Vanier, MT Millat, G

Citation: I. Ribeiro et al., Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations, HUM GENET, 109(1), 2001, pp. 24-32

Authors: Amaral, O Marcao, A Miranda, MCS Desnick, RJ Grace, ME

Citation: O. Amaral et al., Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients, EUR J HUM G, 8(2), 2000, pp. 95-102

Authors: Diaz, GA Gelb, BD Risch, N Nygaard, TG Frisch, A Cohen, IJ Miranda, CS Amaral, O Maire, I Poenaru, L Caillaud, C Weizberg, M Mistry, P Desnick, RJ

Citation: Ga. Diaz et al., Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations, AM J HU GEN, 66(6), 2000, pp. 1821-1832

Authors: Lacerda, L Arosa, FA Lacerda, R Cabeda, J Porto, G Amaral, O Fortuna, A Pinto, R Oliveira, P McLaren, CE Miranda, CS de Sousa, M

Citation: L. Lacerda et al., T cell numbers relate to bone involvement in Gaucher disease, BL CELL M D, 25(8), 1999, pp. 130-138

Authors: Amaral, O Lacerda, L Marcao, A Pinto, E Tamagnini, G Miranda, MCS

Citation: O. Amaral et al., Homozygosity for two mild glucocerebrosidase mutations of probable Iberianorigin, CLIN GENET, 56(1), 1999, pp. 100-102