Hasil Pencarian - Jorge J. Cebolla

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  1. 1
    Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients

    Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients oleh Jorge J. Cebolla, Pilar Giraldo, Jessica Gómez, Carmen Montoto, Javier Gervas-Arruga

    Diterbitkan 2024-08-01
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  2. 2
    Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión

    Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión oleh Pablo del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J. Cebolla

    Diterbitkan 2021-05-01
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  3. 3
    A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review

    A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review oleh Pablo del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J. Cebolla

    Diterbitkan 2021-05-01
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  4. 4
    Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

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

    Diterbitkan 2019-11-01
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  5. 5
    Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

    Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency oleh Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla

    Diterbitkan 2019-07-01
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  6. 6
    In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates

    In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates oleh Javier Gervas-Arruga, Miguel Ángel Barba-Romero, Jorge Julián Fernández-Martín, Jorge Francisco Gómez-Cerezo, Cristina Segú-Vergés, Giacomo Ronzoni, Jorge J. Cebolla

    Diterbitkan 2024-09-01
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  7. 7
    Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

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

    Diterbitkan 2020-09-01
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