1. Association and Linkage Disequilibrium Analyses of APOE Polymorphisms in Atherosclerosis. Issue 2 (2008) Authors: Artieda, Marta; Gañán, Alberto; Cenarro, Ana; García-Otín, Ángel Luis; Jericó, Ivonne; Civeira, Fernando; Pocoví, Miguel Journal: Disease markers Issue: Volume 24:Issue 2(2008) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bicyclic Derivatives of L‐Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease. Issue 8 (18th April 2013) Authors: Alfonso, Pilar; Andreu, Vanesa; Pino‐Angeles, Almudena; Moya‐García, Aurelio A.; García‐Moreno, M. Isabel; Rodríguez‐Rey, José C.; Sánchez‐Jiménez, Francisca; Pocoví, Miguel; Ortiz Mellet, Carmen; García Fernández, Jose M.; Giraldo, Pilar Journal: Chembiochem Issue: Volume 14:Issue 8(2013) Page Start: 943 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity. Issue 10 (13th August 2013) Authors: Alfonso, Pilar; Navascués, Joaquín; Navarro, Silvia; Medina, Pilar; Bolado‐Carrancio, Alfonso; Andreu, Vanesa; Irún, Pilar; Rodríguez‐Rey, José Carlos; Pocoví, Miguel; España, Francisco; Giraldo, Pilar Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Issue 6 (December 2017) Authors: Patterson, Marc C.; Clayton, Peter; Gissen, Paul; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Dardis, Andrea; Dionisi-Vici, Carlo; Klünemann, Hans-Hermann; Latour, Philippe; Lourenço, Charles M.; Ory, Daniel S.; Parker, Alasdair; Pocoví, Miguel; Strupp, Michael; Vanier, Marie T.; Walterfang, ... Journal: Neurology Issue: Volume 7:Issue 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The fine line between familial and polygenic hypercholesterolemia. (June 2013) Authors: De Castro-Orós, Isabel; Pocoví, Miguel; Civeira, Fernando Journal: Clinical lipidology Issue: Volume 8:Number 3(2013) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗