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| 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 |