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| Title : Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease - Ruiz-Andres_2017_JIMD.Rep_37_7 |
| Author(s) : Ruiz-Andres C , Selles E , Arias A , Gort L |
| Ref : JIMD Rep , 37 :7 , 2017 |
| Abstract : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| ESTHER : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedSearch : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedID: 28220406 |
| Gene_locus related to this paper: human-LIPA |
| Title : Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series - Perez-Poyato_2012_Gene_499_297 |
| Author(s) : Perez Poyato MS , Mila Recansens M , Ferrer Abizanda I , Domingo Jimenez R , Lopez Lafuente A , Cusi Sanchez V , Rodriguez-Revenga L , Coll Rosell MJ , Gort L , Poo Arguelles P , Pineda Marfa M |
| Ref : Gene , 499 :297 , 2012 |
| Abstract : Perez-Poyato_2012_Gene_499_297 |
| ESTHER : Perez-Poyato_2012_Gene_499_297 |
| PubMedSearch : Perez-Poyato_2012_Gene_499_297 |
| PubMedID: 22387303 |
| Gene_locus related to this paper: human-PPT1 |