Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : Galactosialidosis: review and analysis of CTSA gene mutations - Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| Author(s) : Caciotti A , Catarzi S , Tonin R , Lugli L , Perez CR , Michelakakis H , Mavridou I , Donati MA , Guerrini R , d'Azzo A , Morrone A |
| Ref : Orphanet J Rare Dis , 8 :114 , 2013 |
| Abstract : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| ESTHER : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedID: 23915561 |
| Gene_locus related to this paper: human-CTSA |
| Title : New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase\/neuraminidase complex and the EBP-receptor - Malvagia_2004_Mol.Genet.Metab_82_48 |
| Author(s) : Malvagia S , Morrone A , Caciotti A , Bardelli T , d'Azzo A , Ancora G , Zammarchi E , Donati MA |
| Ref : Mol Genet Metab , 82 :48 , 2004 |
| Abstract : Malvagia_2004_Mol.Genet.Metab_82_48 |
| ESTHER : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedSearch : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedID: 15110321 |
| Gene_locus related to this paper: human-CTSA |
| 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 |