Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease von Andrade-Campos, Marcio M., de Frutos, Laura Lopez, Cebolla, Jorge J., Serrano-Gonzalo, Irene, Medrano-Engay, Blanca, Roca-Espiau, Mercedes, Gomez-Barrera, Beatriz, Perez-Heredia, Jorge, Iniguez, David, Giraldo, Pilar

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Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease von López de Frutos, Laura, Almeida, Francisco, Murillo-Saich, Jessica, Conceição, Vasco A, Guma, Monica, Queheberger, Oswald, Giraldo, Pilar, Miltenberger-Miltenyi, Gabriel

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease von de Castro, María José, Jones, Simon A, de Las Heras, Javier, Sánchez-Pintos, Paula, Couce, María L, Colón, Cristóbal, Crujeiras, Pablo, Unceta, María, Church, Heather, Brammeier, Kathryn, Yee, Wu Hoi, Cooper, James, López de Frutos, Laura, Serrano-Gonzalo, Irene, Camba, María José, White, Fiona J, Holmes, Victoria, Ghosh, Arunabha

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Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project von Serrano-Gonzalo, Irene, de Frutos, Laura López, Lahoz-Gil, Carlos, Delgado-Mateos, Francisco, Fernández-Galán, María Ángeles, Morales-Conejo, Montserrat, Calle-Gordo, María Victoria, Ibarretxe-Gerediaga, Daiana, Madinaveitia-Ochoa, Andrés, Albarracin-Arraigosa, Antonio, Balanzat-Muñoz, José, Correcher-Medina, Patricia, García-Frade, Luis Javier, Hernández-Rivas, Jesús María, Labbadia, Francesca, López-Dupla, Jesus Miguel, Lozano-Almela, María Luisa, Mora-Casterá, Elvira, Noya-Pereira, María Soledad, Ruíz-Guinaldo, María Ángeles, Del Mar Tormo-Díaz, María, Vitoria-Miñana, Isidro, Arévalo-Vargas, Isidro, Andrade-Campos, Marcio, Giraldo, Pilar

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P1651: IMPACT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) AND MACROPHAGE ACTIVATION IN THE THROMBOTIC EVENTS IN COVID‐19 PATIENTS von Serrano‐Gonzalo, Irene, Menéndez‐Jandula, Bárbara, Arévalo‐Vargas, Isidro, Franco‐García, Ester, Lahoz, Carlos, Latre, Paz, Frutos, Laura López, Köhler, Ralf, Giraldo, Pilar

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New variants in Spanish Niemann–Pick type c disease patients von López de Frutos, Laura, Cebolla, Jorge J., Aldámiz-Echevarría, Luis, de la Vega, Ángela, Stanescu, Sinziana, Lahoz, Carlos, Irún, Pilar, Giraldo, Pilar

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Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease von Roca-Espiau, Mercedes, Andrade-Campos, Marcio, Cebolla, Jorge J, López de Frutos, Laura, Medrano-Engay, Blanca, López-Royo, Maria-Pilar, Giraldo, Pilar

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Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal St... von Oliván-Viguera, Aida, Lozano-Gerona, Javier, López de Frutos, Laura, Cebolla, Jorge J, Irún, Pilar, Abarca-Lachen, Edgar, García-Malinis, Ana J, García-Otín, Ángel Luis, Gilaberte, Yolanda, Giraldo, Pilar, Köhler, Ralf

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Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients von López de Frutos, Laura, Alfonso, Pilar, Lahoz, Carlos, Irún, Pilar, Giraldo, Pilar

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LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population von Irún, Pilar, Cebolla, Jorge J., López de Frutos, Laura, De Castro-Orós, Isabel, Roca-Espiau, Mercedes, Giraldo, Pilar

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Serum protein profile analysis in lysosomal storage disorders patients von López de Frutos, Laura, García-González, Elena, García-Rodríguez, Beatriz, González-Irazabal, Yolanda, Lahoz, Carlos, Irún, Pilar, Cebolla, Jorge J., Giraldo, Pilar

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The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases von López de Frutos, Laura, Cebolla, Jorge J., Irún, Pilar, Köhler, Ralf, Giraldo, Pilar

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Biomarker combination is necessary for the assessment of Gaucher disease? von Giraldo, Pilar, López de Frutos, Laura, Cebolla, Jorge J

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Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients von Silva García, Raúl, de Frutos, Laura López, Arreguin, Elsa Ávila, González, Cecilia Correa, Ortiz, José Elias García, Ornelas, Sergio Franco, Castellano, Pilar Giraldo, Favela, Francisco Blanco

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Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes von López de Frutos, Laura, Cebolla, Jorge J., Irún, Pilar, Köhler, Ralf, Giraldo, Pilar

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Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies? von Andrade-Campos, Marcio, Escuder-Azuara, Beatriz, de Frutos, Laura López, Serrano-Gonzalo, Irene, Giraldo, Pilar

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RETIRADO: Enfermedad de Niemann-Pick tipo C de inicio neonatal asociada a COVID-19 von Bueno-Lozano, Olga, Valle-Guillén, Sofía, Rodríguez, Gerardo, López de Frutos, Laura, Ventura-Faci, Purificación

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Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously von Noya, MSoledad, Andrade‐Campos, Marcio, Irun, Pilar, López de Frutos, Laura, López‐Fernandez, MFernanda, Giraldo, Pilar

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Neonatal-onset Niemann-Pick type C disease with COVID-19 infection von Bueno-Lozano, Olga, Valle-Guillén, Sofía, Rodríguez, Gerardo, López de Frutos, Laura, Ventura-Faci, Purificación

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Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree? von Gonzalo, Irene Serrano, de Frutos, Laura López, Köhler, Ralf, Giraldo, Pilar

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