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 2021-05-01

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 2021-05-01

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

by Mercedes Roca-Espiau, Marcio Andrade-Campos, Jorge J. Cebolla, Laura López de Frutos, Blanca Medrano-Engay, Maria-Pilar López-Royo, Pilar Giraldo
Published 2019-11-01

Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

by Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla
Published 2019-07-01

Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

by 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
Published 2020-09-01