Authors: Miano, M Lanino, E Gatti, R Morreale, G Fondelli, P Celle, ME Stroppiano, M Crescenzi, F Dini, G

Citation: M. Miano et al., Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation, BONE MAR TR, 27(7), 2001, pp. 747-751

Authors: Regis, S Filocamo, M Mazzotti, R Cusano, R Corsolini, F Bonuccelli, G Stroppiano, M Gatti, R

Citation: S. Regis et al., Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, PRENAT DIAG, 21(8), 2001, pp. 668-671

Authors: Stroppiano, M Bonuccelli, G Corsolini, F Filocamo, M

Citation: M. Stroppiano et al., Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT -> GC) in combination with rare IVS10 (+1GT -> CT), AM J MED G, 101(1), 2001, pp. 55-58

Authors: Filocamo, M Bonuccelli, G Mazzotti, R Corsolini, F Stroppiano, M Regis, S Gatti, R

Citation: M. Filocamo et al., Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making, BL CELL M D, 26(6), 2000, pp. 611-612

Authors: Dagnino, F Stroppiano, M Regis, S Bonuccelli, G Filocamo, M

Citation: F. Dagnino et al., Evidence for a founder effect in Sicilian patients with glycogen storage disease type II, HUMAN HERED, 50(6), 2000, pp. 331-333

Authors: Stroppiano, M Regis, S DiRocco, M Caroli, F Gandullia, P Gatti, R

Citation: M. Stroppiano et al., Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia, J INH MET D, 22(1), 1999, pp. 43-49