Strisciuglio P

References (4)

Title : Molecular and biochemical analysis of protective protein\/cathepsin A mutations: correlation with clinical severity in galactosialidosis - Zhou_1996_Hum.Mol.Genet_5_1977
Author(s) : Zhou XY , van der Spoel A , Rottier R , Hale G , Willemsen R , Berry GT , Strisciuglio P , Morrone A , Zammarchi E , Andria G , d'Azzo A
Ref : Hum Mol Genet , 5 :1977 , 1996
Abstract :
PubMedSearch : Zhou_1996_Hum.Mol.Genet_5_1977
PubMedID: 8968752
Gene_locus related to this paper: human-CTSA

Title : Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form - Strisciuglio_1990_Am.J.Med.Genet_37_573
Author(s) : Strisciuglio P , Sly WS , Dodson WE , McAlister WH , Martin TC
Ref : American Journal of Medicine Genet , 37 :573 , 1990
Abstract :
PubMedSearch : Strisciuglio_1990_Am.J.Med.Genet_37_573
PubMedID: 2148053
Gene_locus related to this paper: human-CTSA

Title : The presence of a reduced amount of 32-kd protective protein is a distinct biochemical finding in late infantile galactosialidosis - Strisciuglio_1988_Hum.Genet_80_304
Author(s) : Strisciuglio P , Parenti G , Giudice C , Lijoi S , Hoogeveen AT , d'Azzo A
Ref : Hum Genet , 80 :304 , 1988
Abstract :
PubMedSearch : Strisciuglio_1988_Hum.Genet_80_304
PubMedID: 3142815
Gene_locus related to this paper: human-CTSA

Title : Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts - Strisciuglio_1984_Pediatr.Res_18_167
Author(s) : Strisciuglio P , Creek KE , Sly WS
Ref : Pediatr Res , 18 :167 , 1984
Abstract :
PubMedSearch : Strisciuglio_1984_Pediatr.Res_18_167
PubMedID: 6422434
Gene_locus related to this paper: human-CTSA