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| 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 : Zhou_1996_Hum.Mol.Genet_5_1977 |
| ESTHER : Zhou_1996_Hum.Mol.Genet_5_1977 |
| 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 : Strisciuglio_1990_Am.J.Med.Genet_37_573 |
| ESTHER : Strisciuglio_1990_Am.J.Med.Genet_37_573 |
| 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 : Strisciuglio_1988_Hum.Genet_80_304 |
| ESTHER : Strisciuglio_1988_Hum.Genet_80_304 |
| 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 : Strisciuglio_1984_Pediatr.Res_18_167 |
| ESTHER : Strisciuglio_1984_Pediatr.Res_18_167 |
| PubMedSearch : Strisciuglio_1984_Pediatr.Res_18_167 |
| PubMedID: 6422434 |
| Gene_locus related to this paper: human-CTSA |