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| Title : Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders - Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59 |
| Author(s) : Fernandez-Marmiesse A , Morey M , Pineda M , Eiris J , Couce ML , Castro-Gago M , Fraga JM , Lacerda L , Gouveia S , Perez-Poyato MS , Armstrong J , Castineiras D , Cocho JA |
| Ref : Orphanet J Rare Dis , 9 :59 , 2014 |
| Abstract : Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59 |
| ESTHER : Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59 |
| PubMedSearch : Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59 |
| PubMedID: 24767253 |
| Title : Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients - Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| Author(s) : Perez-Poyato MS , Mila Recansens M , Ferrer Abizanda I , Montero Sanchez R , Rodriguez-Revenga L , Cusi Sanchez V , Garcia Gonzalez MM , Domingo Jimenez R , Camino Leon R , Velazquez Fragua R , Martinez-Bermejo A , Pineda Marfa M |
| Ref : J Inherit Metab Dis , 34 :1083 , 2011 |
| Abstract : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| ESTHER : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| PubMedSearch : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| PubMedID: 21499717 |
| Gene_locus related to this paper: human-PPT1 |