Search Results - Jorge J. Cebolla

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

    Published 2021
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    A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review by Pablo del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J. Cebolla

    Published 2021
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