Authors: Reis, FD Caldas, HC Norato, DYJ Schwartz, IVD Giugliani, R Burin, MG Sartorato, EL

Citation: Fd. Reis et al., Glycogen storage disease type Ia: molecular study in Brazilian patients, J HUM GENET, 46(3), 2001, pp. 146-149

Authors: Utagawa, CY Sugayama, SMM Ribeiro, EM Bertola, DR Baba, ER Burin, MG Lewis, E Coelho, JC Fensom, AH Marques-Dias, MJ Gonzales, CH Kim, CA Giugliani, R

Citation: Cy. Utagawa et al., Infantile sialic acid storage disease: report of the first case in South America, CLIN GENET, 55(5), 1999, pp. 386-387

Authors: Jardim, LB Giugliani, R Pires, RF Haussen, S Burin, MG Rafi, MA Wenger, DA

Citation: Lb. Jardim et al., Protracted course of Krabbe disease in an adult patient bearing a novel mutation, ARCH NEUROL, 56(8), 1999, pp. 1014-1017

Authors: dos Santos, CMC Correia, PS Rosa, AAS Vanazzi, E Coelho, JC Burin, MG Giugliani, R Fensom, AH de Oliveira, CPH de Oliveira, MLC Llerena, JC

Citation: Cmc. Dos Santos et al., Early infantile form of galactosialidosis in a female baby with a prenataldiagnosis of fetal ascites - First case in Brazil, GENET MOL B, 21(4), 1998, pp. 443-446