Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

Por Amaral, O, Fortuna, A M, Lacerda, L, Pinto, R, Sa Miranda, M C
Publicado em 1994

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.

Por dos Santos, M R, Tanaka, A, sá Miranda, M C, Ribeiro, M G, Maia, M, Suzuki, K
Publicado em 1991

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.

Por van Weely, S, van den Berg, M, Barranger, J A, Sa Miranda, M C, Tager, J M, Aerts, J M
Publicado em 1993

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Por Ribeiro, M G, Sonin, T, Pinto, R A, Fontes, A, Ribeiro, H, Pinto, E, Palmeira, M M, Sá Miranda, M C
Publicado em 1996

Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.

Por Aerts, J M, Donker-Koopman, W E, Brul, S, Van Weely, S, Sa Miranda, M C, Barranger, J A, Tager, J M, Schram, A W
Publicado em 1990